ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5529-1268C>A

dbSNP: rs765557914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226545 SCV001398864 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1844*) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 954141). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV001819923 SCV002064437 pathogenic not provided 2020-01-28 criteria provided, single submitter clinical testing

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