ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002592242 SCV003498713 uncertain significance X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2022-05-19 criteria provided, single submitter clinical testing This variant, c.1197_1205dup, results in the insertion of 3 amino acid(s) of the WAS protein (p.Pro402_Pro404dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781960751, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with WAS-related conditions. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004790375 SCV005411430 uncertain significance not provided 2024-03-18 criteria provided, single submitter clinical testing BP3, PM2
PreventionGenetics, part of Exact Sciences RCV003420362 SCV004107033 uncertain significance WAS-related disorder 2024-04-25 no assertion criteria provided clinical testing The WAS c.1197_1205dup9 variant is predicted to result in an in-frame duplication (p.Pro402_Pro404dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0053% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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