ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.296A>G (p.Gln99Arg)

dbSNP: rs2062416153
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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 RCV002020532 SCV002306614 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2020-11-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 99 of the WAS protein (p.Gln99Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine 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. Experimental studies have shown that this variant does not substantially affect WAS protein function (PMID: 19817875). This variant has been observed in individual(s) with clinical features of Wiskott-Aldrich Syndrome (PMID: 8931701). This variant is not present in population databases (ExAC no frequency).

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