Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000518026 | SCV000616248 | pathogenic | not provided | 2017-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000518026 | SCV001590138 | pathogenic | not provided | 2023-05-02 | 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: 448862). This premature translational stop signal has been observed in individuals with chorea-acanthocytosis (PMID: 12404112, 25733999, 31192303). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg1471*) 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). |
Natera, |
RCV001829479 | SCV002078253 | pathogenic | Chorea-acanthocytosis | 2021-06-14 | no assertion criteria provided | clinical testing |