ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter)

dbSNP: rs2144506487
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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 RCV001388667 SCV001589741 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2125*) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CACNA1A-related conditions. 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.

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