ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter)

dbSNP: rs767432719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814263 SCV000954665 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2018-10-15 criteria provided, single submitter clinical testing Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). For these reasons, this variant has been classified as Pathogenic. 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.Tyr479*) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product.

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