ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)

dbSNP: rs1085307750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489660 SCV000577210 pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 31 amino acids are replaced with 5 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 12404112, 30713887, 31543803, 24077912)
Invitae RCV000489660 SCV001401240 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu3144Valfs*6) in the VPS13A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the VPS13A protein. This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Chorea-acanthocytosis (PMID: 12404112, 30713887, 31543803). It has also been observed to segregate with disease in related individuals. This variant is also known as 9431_9432delAG (p.3134Rfsx5). ClinVar contains an entry for this variant (Variation ID: 426695). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003133278 SCV003816543 likely pathogenic Chorea-acanthocytosis 2022-03-30 criteria provided, single submitter clinical testing

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