NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Nov 3, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001339128.10

Allele description [Variation Report for NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)]

NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)

Gene:

PPOX:protoporphyrinogen oxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg)

HGVS:

NC_000001.11:g.161170493G>A
NG_011480.1:g.12032C>T
NG_012877.2:g.9103G>A
NM_000309.5:c.1072G>A
NM_001122764.3:c.1072G>AMANE SELECT
NM_001350128.2:c.973G>A
NM_001350129.2:c.664G>A
NM_001350130.2:c.586G>A
NM_001350131.2:c.586G>A
NM_001365398.1:c.1072G>A
NM_001365399.1:c.988-127G>A
NM_001365400.1:c.664G>A
NM_001365401.1:c.586G>A
NP_000300.1:p.Gly358Arg
NP_001116236.1:p.Gly358Arg
NP_001337057.1:p.Gly325Arg
NP_001337058.1:p.Gly222Arg
NP_001337059.1:p.Gly196Arg
NP_001337060.1:p.Gly196Arg
NP_001352327.1:p.Gly358Arg
NP_001352329.1:p.Gly222Arg
NP_001352330.1:p.Gly196Arg
LRG_1078t1:c.1072G>A
LRG_1078:g.9103G>A
LRG_1078p1:p.Gly358Arg
NC_000001.10:g.161140283G>A
NM_001122764.1:c.1072G>A

Protein change:

G196R; GLY358ARG

Links:

OMIM: 600923.0015; dbSNP: rs374936130

NCBI 1000 Genomes Browser:

rs374936130

Molecular consequence:

NM_001365399.1:c.988-127G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000309.5:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001122764.3:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350128.2:c.973G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350129.2:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350130.2:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350131.2:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365398.1:c.1072G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365400.1:c.664G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001365401.1:c.586G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001532849	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 7, 2020)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 21048046, 9540991, 9811936, 28492532
SCV002011129	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 3, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001532849

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 7, 2020)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV002011129

Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 3, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Structural insight into human variegate porphyria disease.

Qin X, Tan Y, Wang L, Wang Z, Wang B, Wen X, Yang G, Xi Z, Shen Y.

FASEB J. 2011 Feb;25(2):653-64. doi: 10.1096/fj.10-170811. Epub 2010 Nov 3.

PubMed [citation]

PMID:: 21048046

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.

Frank J, McGrath J, Lam H, Graham RM, Hawk JL, Christiano AM.

J Invest Dermatol. 1998 Apr;110(4):452-5. Review.

PubMed [citation]

PMID:: 9540991

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001532849.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

Experimental studies have shown that this variant affects PPOX protein function (PMID: 21048046, 9811936). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has been observed in individual(s) with variegate porphyria (PMID: 9540991, 9811936). ClinVar contains an entry for this variant (Variation ID: 915371). This variant is present in population databases (rs374936130, ExAC 0.006%). This sequence change replaces glycine with arginine at codon 358 of the PPOX protein (p.Gly358Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002011129.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 13, 2025

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