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 2024-01-22 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp 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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