ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.689A>G (p.Lys230Arg)

dbSNP: rs1569493872
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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 RCV000695862 SCV000824384 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2019-05-10 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 230 of the WAS protein (p.Lys230Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WAS-related disease. This variant is not present in population databases (ExAC no frequency).

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