Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000817571 | SCV000958140 | pathogenic | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2018-09-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). This variant has not been reported in the literature in individuals with CACNA1A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1687*) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. |
Institute of Human Genetics, |
RCV001706710 | SCV001934227 | likely pathogenic | Episodic ataxia type 2 | 2020-10-08 | criteria provided, single submitter | clinical testing |