ClinVar Miner

Submissions for variant NM_000377.2(WAS):c.961C>T (p.Arg321Ter) (rs1557007123)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520558 SCV000617738 pathogenic not provided 2017-08-21 criteria provided, single submitter clinical testing The R321X nonsense variant in the WAS gene has been reported previously in association with WAS-related disorders (for examples, see Zhu et al., 1995; David et al., 2012; Shin et al., 2012; Senapati et al., 2014). This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R321X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider R321X to be pathogenic.
Invitae RCV000818878 SCV000959515 pathogenic Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 2018-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg321*) 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 been observed in several individuals affected with Wiskott-Aldrich syndrome (PMID: 7579347, 21185603, 22426750, 22679904, 25332606, 25792466). This variant is also known as 995C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 449515). Loss-of-function variants in WAS are known to be pathogenic (PMID: 15284122). For these reasons, this variant has been classified as Pathogenic.

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