NM_000202.8(IDS):c.1478G>A (p.Arg493His) AND Mucopolysaccharidosis, MPS-III-A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 8, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001829038.1

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)

Name:: Mucopolysaccharidosis, MPS-III-A (MPS3A)
Synonyms:: HEPARAN SULFATE SULFATASE DEFICIENCY; SANFILIPPO SYNDROME A; SULFAMIDASE DEFICIENCY; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009655; MedGen: C0086647; Orphanet: 581; Orphanet: 79269; OMIM: 252900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002084455	Natera, Inc.	no assertion criteria provided	Uncertain significance (Apr 8, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002084455

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Apr 8, 2020)

germline

clinical testing

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

Details of each submission

From Natera, Inc., SCV002084455.1

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

Last Updated: Aug 16, 2026

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