Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001208989 | SCV001380407 | pathogenic | not provided | 2023-04-28 | criteria provided, single submitter | clinical testing | 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). 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%). |
Natera, |
RCV001828675 | SCV002078234 | pathogenic | Chorea-acanthocytosis | 2020-08-15 | no assertion criteria provided | clinical testing |