Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246757 | SCV001420139 | pathogenic | not provided | 2023-09-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr3098Cysfs*12) 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 (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with chorea-acanthocytosis (PMID: 11381253). This variant is also known as 9286–9289dupTTTG. ClinVar contains an entry for this variant (Variation ID: 971066). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001835280 | SCV002810888 | pathogenic | Chorea-acanthocytosis | 2022-01-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001835280 | SCV002081109 | pathogenic | Chorea-acanthocytosis | 2021-03-12 | no assertion criteria provided | clinical testing |