ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter)

gnomAD frequency: 0.00001  dbSNP: rs119477053
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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 RCV002512780 SCV003441380 pathogenic not provided 2022-02-15 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: 4685). This premature translational stop signal has been observed in individual(s) with choreo-acanthocytosis (PMID: 11381253). This variant is present in population databases (rs119477053, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg208*) 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).
OMIM RCV000004949 SCV000025125 pathogenic Chorea-acanthocytosis 2002-11-01 no assertion criteria provided literature only

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