ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)

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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 RCV003062215 SCV003440796 pathogenic not provided 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser539*) 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 present in population databases (rs758612012, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with choreoacanthocytosis (PMID: 12404112). ClinVar contains an entry for this variant (Variation ID: 2136781). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003485808 SCV004238798 likely pathogenic Chorea-acanthocytosis 2023-02-15 criteria provided, single submitter clinical testing

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