NM_000202.8(IDS):c.1478G>A (p.Arg493His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 29, 2018
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:: RCV002393637.2

Allele description [Variation Report for NM_000202.8(IDS):c.1478G>A (p.Arg493His)]

NM_000202.8(IDS):c.1478G>A (p.Arg493His)

Gene:

IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000202.8(IDS):c.1478G>A (p.Arg493His)

HGVS:

NC_000023.11:g.149482921C>T
NG_011900.3:g.27414G>A
NM_000202.8:c.1478G>AMANE SELECT
NM_001166550.4:c.1208G>A
NP_000193.1:p.Arg493His
NP_001160022.1:p.Arg403His
NC_000023.10:g.148564452C>T
NC_000023.10:g.148564452C>T
NM_000202.5:c.1478G>A
NM_000202.6:c.1478G>A

Protein change:

R403H

Links:

dbSNP: rs782347729

Molecular consequence:

NM_000202.8:c.1478G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001166550.4:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002699545	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 29, 2018)	germline	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

SCV002699545

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 29, 2018)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

Pollard LM, Jones JR, Wood TC.

J Inherit Metab Dis. 2013 Mar;36(2):179-87. doi: 10.1007/s10545-012-9533-7. Epub 2012 Sep 14.

PubMed [citation]

PMID:: 22976768

Details of each submission

From Ambry Genetics, SCV002699545.2

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

Description

The p.R493H variant (also known as c.1478G>A), located in coding exon 9 of the IDS gene, results from a G to A substitution at nucleotide position 1478. The arginine at codon 493 is replaced by histidine, an amino acid with highly similar properties. Another alteration affecting the same amino acid, p.R493P (c.1478G>C), has been reported in a mucopolysaccharidosis cohort (Pollard LM et al. J. Inherit. Metab. Dis., 2013 Mar;36:179-87). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

Last Updated: Aug 16, 2026

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