NM_000202.8(IDS):c.1478G>A (p.Arg493His) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 2025
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:: RCV006453602.1

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)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV007336491	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Oct 20, 2025)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 29801497, 35887520, 36907694, 38053932 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV007336491

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Oct 20, 2025)

germline

clinical testing

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

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

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.

Chuang CK, Lin HY, Wang TJ, Huang YH, Chan MJ, Liao HC, Lo YT, Wang LY, Tu RY, Fang YY, Chen TL, Ho HC, Chiang CC, Lin SP.

Orphanet J Rare Dis. 2018 May 25;13(1):84. doi: 10.1186/s13023-018-0816-4.

PubMed [citation]

PMID:: 29801497
PMCID:: PMC5970538

Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.

Lin HY, Chang YH, Lee CL, Tu YR, Lo YT, Hung PW, Niu DM, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Chuang CK, Lin SP.

J Pers Med. 2022 Jun 21;12(7). doi: 10.3390/jpm12071023.

PubMed [citation]

PMID:: 35887520
PMCID:: PMC9320252

See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV007336491.1

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

Description

Variant summary: IDS c.1478G>A (p.Arg493His) results in a non-conservative amino acid change in the encoded protein sequence. Algorithms developed to predict the effect of missense changes on protein structure and function all suggest that this variant is likely to be disruptive. The variant allele was found at a frequency of 1.6e-05 in 183355 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1478G>A has been observed in individuals affected with Mucopolysaccharidosis Type II (Hunter Syndrome) (Chuang_2018, Lin_2019, Burton_2023). These report(s) do not provide unequivocal conclusions about association of the variant with Mucopolysaccharidosis Type II (Hunter Syndrome). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 36907694, 29801497, 38053932, 35887520). ClinVar contains an entry for this variant (Variation ID: 968479). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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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