ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.5905dup (p.Arg1969fs)

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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 RCV003029313 SCV003325114 pathogenic not provided 2022-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1969Lysfs*6) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VPS13A-related conditions. For these reasons, this variant has been classified as Pathogenic.

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