ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.271C>T (p.Gln91Ter)

dbSNP: rs1557006354
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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 RCV000633306 SCV000754523 pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2017-08-17 criteria provided, single submitter clinical testing 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). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln91*) in the WAS gene. It is expected to result in an absent or disrupted protein product.

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