ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.631C>T (p.Arg211Ter)

dbSNP: rs1602178165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802424 SCV000942255 pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2024-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg211*) in the WAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WAS are known to be pathogenic (PMID: 15284122). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wiskott–Aldrich syndrome (PMID: 8595430, 21185603). ClinVar contains an entry for this variant (Variation ID: 647830). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002067393 SCV002498129 pathogenic not provided 2022-01-01 criteria provided, single submitter clinical testing

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