ClinVar Miner

Submissions for variant NC_000019.9:g.(?_13338225)_(13342694_?)del

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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 RCV001382630 SCV001581481 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-02-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 35-37 of the CACNA1A gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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