ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter)

dbSNP: rs1193250444
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518026 SCV000616248 pathogenic not provided 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV000518026 SCV001590138 pathogenic not provided 2023-05-02 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: 448862). This premature translational stop signal has been observed in individuals with chorea-acanthocytosis (PMID: 12404112, 25733999, 31192303). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg1471*) 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).
Natera, Inc. RCV001829479 SCV002078253 pathogenic Chorea-acanthocytosis 2021-06-14 no assertion criteria provided clinical testing

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