ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1040dup (p.Leu347fs)

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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 RCV003042620 SCV003332682 pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-03-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the WAS protein in which other variant(s) (p.Leu425Profs*70) have been determined to be pathogenic (PMID: 8528198, 11442475, 12727931, 24210885). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with WAS-related conditions. This sequence change creates a premature translational stop signal (p.Leu347Phefs*148) in the WAS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 156 amino acid(s) of the WAS protein.

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