ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.805A>T (p.Ser269Cys)

dbSNP: rs2147265903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982034 SCV002212848 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2021-05-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has been observed in individual(s) with clinical features of WAS-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 269 of the WAS protein (p.Ser269Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine.

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