ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.5761C>T (p.Arg1921Ter)

dbSNP: rs1369905878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268247 SCV001447038 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001268247 SCV001588865 pathogenic not provided 2023-02-16 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: 987032). This premature translational stop signal has been observed in individual(s) with chorea-acanthocytosis (PMID: 21598378). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1921*) 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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