ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1073G>A (p.Gly358Glu)

dbSNP: rs267606468
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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 RCV002032310 SCV002317526 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2020-11-04 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with WAS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glycine with glutamic acid at codon 358 of the WAS protein (p.Gly358Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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