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NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 19, 2022
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:
RCV002282298.1

Allele description [Variation Report for NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)]

NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)

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.787A>T (p.Arg263Trp)
HGVS:
  • NC_000004.12:g.1001876A>T
  • NG_008103.1:g.19880A>T
  • NM_000203.5:c.787A>TMANE SELECT
  • NM_001363576.1:c.391A>T
  • NP_000194.2:p.Arg263Trp
  • NP_001350505.1:p.Arg131Trp
  • LRG_1277t1:c.787A>T
  • LRG_1277:g.19880A>T
  • LRG_1277p1:p.Arg263Trp
  • NC_000004.11:g.995664A>T
  • NM_000203.3:c.787A>T
  • NM_000203.4:c.787A>T
  • NR_110313.1:n.875A>T
Protein change:
R131W
Links:
dbSNP: rs201268637
NCBI 1000 Genomes Browser:
rs201268637
Molecular consequence:
  • NM_000203.5:c.787A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.391A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.875A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002570532Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Jul 19, 2022)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, Polo G, Burlina A.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Review. Erratum in: Ital J Pediatr. 2019 Jun 11;45(1):71. doi: 10.1186/s13052-019-0665-3.

PubMed [citation]
PMID:
30442156
PMCID:
PMC6238254

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, Bembi B, Cazzorla C, Rubert L, Zordan R, Desnick RJ, Burlina AP.

J Inherit Metab Dis. 2018 Mar;41(2):209-219. doi: 10.1007/s10545-017-0098-3. Epub 2017 Nov 15.

PubMed [citation]
PMID:
29143201
See all PubMed Citations (5)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002570532.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

Variant summary: IDUA c.787A>T (p.Arg263Trp) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00013 in 193392 control chromosomes. This frequency is not higher than expected for a pathogenic variant in IDUA causing Mucopolysaccharidosis Type 1 (0.00013 vs 0.0027), allowing no conclusion about variant significance. c.787A>T has been reported in the literature in individuals with a positive newborn screening result for IDUA-related disease or diagnosed with pseudo mucopolysaccharidosis in homozygous or compound heterozygous state (examples: Burlina_2018, Donati_2018, Taylor_2019 and Polo_2020). These reports do not provide unequivocal conclusions about association of the variant with Mucopolysaccharidosis Type 1. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as VUS (n=5) and likely benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024