Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657995 | SCV000779766 | pathogenic | not provided | 2018-05-31 | criteria provided, single submitter | clinical testing | The Q848X nonsense variant in the CACNA1A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q848X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q848X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is pathogenic. |
Invitae | RCV001382612 | SCV001581453 | pathogenic | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2020-09-06 | criteria provided, single submitter | clinical testing | 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 conditions. ClinVar contains an entry for this variant (Variation ID: 546157). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln848*) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |