ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter)

gnomAD frequency: 0.00002  dbSNP: rs199807227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035586 SCV001198919 pathogenic not provided 2023-06-25 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: 834822). This premature translational stop signal has been observed in individual(s) with VPS13A-related conditions (PMID: 11381253, 21598378, 27400454). This variant is present in population databases (rs199807227, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg3037*) 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).
Fulgent Genetics, Fulgent Genetics RCV001333419 SCV002808740 pathogenic Chorea-acanthocytosis 2022-04-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001333419 SCV001452564 pathogenic Chorea-acanthocytosis 2020-09-16 no assertion criteria provided clinical testing

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