ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter)

gnomAD frequency: 0.00005  dbSNP: rs764376151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800102 SCV000939802 pathogenic not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2032*) 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 (rs764376151, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with chorea-acanthocytosis (PMID: 12404112). ClinVar contains an entry for this variant (Variation ID: 645922). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003392604 SCV004120315 pathogenic VPS13A-related disorder 2023-02-27 criteria provided, single submitter clinical testing The VPS13A c.6094C>T variant is predicted to result in premature protein termination (p.Arg2032*). This variant was reported in a patient with chorea-acanthocytosis (Dobson-Stone et al. 2002. PubMed ID: 12404112). This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-79947028-C-T). Nonsense variants in VPS13A are expected to be pathogenic. This variant is interpreted as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005047078 SCV005682548 likely pathogenic Chorea-acanthocytosis 2024-01-23 criteria provided, single submitter clinical testing

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