ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.676_784+1178del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796445 SCV000935959 likely pathogenic Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2018-11-22 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with CACNA1A-related disease. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). 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.

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