ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6697_6700dup (p.Asp2234fs)

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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 RCV002889983 SCV003240987 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-11-07 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CACNA1A gene (p.Asp2235Alafs*32). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the CACNA1A protein and extend the protein by 4 additional amino acid residues. For these reasons, this variant has been classified as Pathogenic. This frameshift has been observed in individual(s) with clinical features of epileptic encephalopathy with cerebellar atrophy (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).

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