ClinVar Miner

Submissions for variant NM_000377.3(WAS):c.436del (p.Gln146fs)

dbSNP: rs2062417558
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058410 SCV001222976 pathogenic X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 2023-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 853574). This variant is also known as c.470delC (p.Gln146fsX260). This premature translational stop signal has been observed in individual(s) with Wiskott-Aldrich syndrome (PMID: 19308710). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln146Lysfs*115) 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).

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