ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs)

dbSNP: rs1834577610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246757 SCV001420139 pathogenic not provided 2023-09-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr3098Cysfs*12) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with chorea-acanthocytosis (PMID: 11381253). This variant is also known as 9286–9289dupTTTG. ClinVar contains an entry for this variant (Variation ID: 971066). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001835280 SCV002810888 pathogenic Chorea-acanthocytosis 2022-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835280 SCV002081109 pathogenic Chorea-acanthocytosis 2021-03-12 no assertion criteria provided clinical testing

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