Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | 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). |
Pediatrics, |
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. |