NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) AND Hurler syndrome

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 11, 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:: RCV000592086.14

Allele description [Variation Report for NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)]

NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)

Genes:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)

HGVS:

NC_000004.12:g.987137T>C
NG_008103.1:g.5141T>C
NG_033042.1:g.11300A>G
NG_158244.2:g.337T>C
NM_000203.5:c.53T>CMANE SELECT
NM_134425.4:c.576+3991A>G
NP_000194.2:p.Leu18Pro
LRG_1277t1:c.53T>C
LRG_1277:g.5141T>C
LRG_1277p1:p.Leu18Pro
NC_000004.11:g.980925T>C
NM_000203.3:c.53T>C
NM_000203.4(IDUA):c.53T>C
NR_110313.1:n.141T>C
P35475:p.Leu18Pro

Protein change:

L18P

Links:

UniProtKB: P35475#VAR_072367; dbSNP: rs794726878

NCBI 1000 Genomes Browser:

rs794726878

Molecular consequence:

NM_134425.4:c.576+3991A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000203.5:c.53T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_110313.1:n.141T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hurler syndrome
Synonyms:: MUCOPOLYSACCHARIDOSIS TYPE IH; Gargoylism, Hurler Syndrome
Identifiers:: MONDO: MONDO:0011758; MedGen: C0086795; OMIM: 607014

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800112	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (May 22, 2018)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25557439, 25256405 Citation Link,
SCV001136673	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (Mar 11, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800112

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(May 22, 2018)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV001136673

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(Mar 11, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.

Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB.

Mol Genet Metab. 2015 Feb;114(2):274-80. doi: 10.1016/j.ymgme.2014.11.015. Epub 2014 Dec 6.

PubMed [citation]

PMID:: 25557439
PMCID:: PMC4386860

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.

Pasqualim G, Ribeiro MG, da Fonseca GG, Szlago M, Schenone A, Lemes A, Rojas MV, Matte U, Giugliani R.

Clin Genet. 2015 Oct;88(4):376-80. doi: 10.1111/cge.12507. Epub 2014 Oct 21.

PubMed [citation]

PMID:: 25256405

Details of each submission

From Counsyl, SCV000800112.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

From Mendelics, SCV001136673.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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