ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)

dbSNP: rs2058057299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038879 SCV001202379 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe551Serfs*21) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814259 SCV002061573 likely pathogenic Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-09-15 criteria provided, single submitter clinical testing PVS1, PM2

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