ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1321_1322del (p.Asn441fs)

dbSNP: rs2131195691
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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 RCV001878935 SCV002137510 pathogenic not provided 2021-06-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with VPS13A-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn441Tyrfs*2) in the VPS13A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13A are known to be pathogenic (PMID: 12404112, 21598378).

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