ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter)

gnomAD frequency: 0.00002  dbSNP: rs771943305
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208989 SCV001380407 pathogenic not provided 2023-04-28 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: 939569). This premature translational stop signal has been observed in individual(s) with choreoacanthocytosis (PMID: 21598378, 24974674). This variant is present in population databases (rs771943305, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg731*) 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).
GeneDx RCV001208989 SCV005201616 pathogenic not provided 2024-01-07 criteria provided, single submitter clinical testing Reported with a second VPS13A variant, phase unknown, in a patient with chorea-acanthocytosis (PMID: 21598378); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21598378, 24974674)
Natera, Inc. RCV001828675 SCV002078234 pathogenic Chorea-acanthocytosis 2020-08-15 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.