NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) AND Hurler syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 29, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000669801.1

Allele description [Variation Report for NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)]

NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)

Gene:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)

HGVS:

NC_000004.12:g.1001846G>T
NG_008103.1:g.19850G>T
NM_000203.5:c.757G>TMANE SELECT
NM_001363576.1:c.361G>T
NP_000194.2:p.Gly253Cys
NP_001350505.1:p.Gly121Cys
LRG_1277t1:c.757G>T
LRG_1277:g.19850G>T
LRG_1277p1:p.Gly253Cys
NC_000004.11:g.995634G>T
NM_000203.3:c.757G>T
NM_000203.4:c.757G>T
NR_110313.1:n.845G>T

Protein change:

G121C

Links:

dbSNP: rs546933529

NCBI 1000 Genomes Browser:

rs546933529

Molecular consequence:

NM_000203.5:c.757G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001363576.1:c.361G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_110313.1:n.845G>T - 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
SCV000794587	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Sep 29, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794587

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Sep 29, 2017)

unknown

clinical testing

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

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

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Sankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A.

Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26.

PubMed [citation]

PMID:: 27146977

Details of each submission

From Counsyl, SCV000794587.1

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

Last Updated: Sep 29, 2024

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