ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4065del (p.Ile1356fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004606147 SCV005099560 pathogenic Inborn genetic diseases 2024-03-22 criteria provided, single submitter clinical testing The c.4068delC (p.I1357Sfs*15) alteration, located in exon 25 (coding exon 25) of the CACNA1A gene, consists of a deletion of one nucleotide at position 4068, causing a translational frameshift with a predicted alternate stop codon after 15 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. for episodic ataxia, type 2; however, its clinical significance for CACNA1A-related neurologic disorder is uncertain, and it is unlikely to be causative of CACNA1A-related spinocerebellar ataxia. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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