ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226703 SCV003922783 likely pathogenic Developmental and epileptic encephalopathy, 42 2023-03-26 criteria provided, single submitter clinical testing Variant summary: CACNA1A c.2346dupG (p.Arg783AlafsX14) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in association with CACNA1A-related disease in the HGMD database. The variant was absent in 240484 control chromosomes. To our knowledge, no occurrence of c.2346dupG in individuals affected with CACNA1A-related disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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