Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035586 | SCV001198919 | pathogenic | not provided | 2023-06-25 | 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: 834822). This premature translational stop signal has been observed in individual(s) with VPS13A-related conditions (PMID: 11381253, 21598378, 27400454). This variant is present in population databases (rs199807227, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg3037*) 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). |
Fulgent Genetics, |
RCV001333419 | SCV002808740 | pathogenic | Chorea-acanthocytosis | 2022-04-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001333419 | SCV001452564 | pathogenic | Chorea-acanthocytosis | 2020-09-16 | no assertion criteria provided | clinical testing |