NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) AND Retinal dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 1, 2023
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:: RCV001075874.5

Allele description [Variation Report for NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)]

NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)

Other names:

NP_000530.1:p.(Pro347Leu)

HGVS:

NC_000003.12:g.129533711C>T
NG_009115.1:g.10073C>T
NM_000539.3:c.1040C>TMANE SELECT
NP_000530.1:p.Pro347Leu
NC_000003.11:g.129252554C>T
P08100:p.Pro347Leu

Protein change:

P347L; PRO347LEU

Links:

UniProtKB: P08100#VAR_004834; OMIM: 180380.0002; dbSNP: rs29001566

NCBI 1000 Genomes Browser:

rs29001566

Molecular consequence:

NM_000539.3:c.1040C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001241515	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Aug 15, 2019)	germline	clinical testing	Citation Link,
SCV004705682	Dept Of Ophthalmology, Nagoya University	criteria provided, single submitter (Submitter's publication)	Pathogenic (Oct 1, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001241515

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Aug 15, 2019)

germline

clinical testing

Citation Link,

SCV004705682

Dept Of Ophthalmology, Nagoya University

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Oct 1, 2023)

germline

research

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001241515.1

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

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

From Dept Of Ophthalmology, Nagoya University, SCV004705682.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

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

Last Updated: Nov 24, 2024

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