ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.355G>T (p.Gly119Ter)

dbSNP: rs1602177243
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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 RCV000818272 SCV000958874 pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2018-12-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gly119*) in the WAS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WAS-related disease. Loss-of-function variants in WAS are known to be pathogenic (PMID: 15284122).

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