ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.344A>G (p.His115Arg) (rs1569493774)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701351 SCV000830150 uncertain significance Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 2018-07-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 115 of the WAS protein (p.His115Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with a WAS-related disease in a family (Invitae). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). The observation of one or more missense substitutions at this codon (p.His115Arg and p.His115Tyr) in affected individuals suggests that this may be a clinically significant residue (PMID: 10575547, Invitae) 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.

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