Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817590 | SCV000958159 | pathogenic | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2022-08-09 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of episodic ataxia type 2 (PMID: 27066515). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 660404). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr310Phefs*5) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). |