ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.801G>T (p.Trp267Cys)

dbSNP: rs2124041510
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001376692 SCV003445915 likely pathogenic Mucopolysaccharidosis, MPS-II 2022-02-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects IDS function (PMID: 15614569). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1065831). This missense change has been observed in individual(s) with mucopolysaccharidosis II (PMID: 31877959; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 267 of the IDS protein (p.Trp267Cys).
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001376692 SCV005089246 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only In vitro or in vivo functional studies supportive of a damaging effect (PS3_Moderate), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Moderate)
Pediatrics, All India Institute of Medical Sciences, New Delhi RCV001376692 SCV001573790 affects Mucopolysaccharidosis, MPS-II 2014-04-09 no assertion criteria provided research The change c.801G>T (p.W267C)) was found to be a missense variant, where the aromatic nonpolar neutral amino acid Tryptophan at 267 position was substituted by sulfur-containing nonpolar neutral amino acid Cysteine. It was detected in the hemizygous condition in two sibs from same family with MPS-II attenuated phenotype from Jharkhand, India.

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