ClinVar Miner

Submissions for variant NC_000019.9:g.(?_13474954)_(13476240_?)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 RCV004581142 SCV005065175 likely pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2018-11-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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 disease. This variant is a deletion of the genomic region encompassing part of exon 5 (c.675_784+1177del) of the CACNA1A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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