ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter)

dbSNP: rs1420078244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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