ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3693-4A>G

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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 RCV003784729 SCV004575181 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-01-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 21 of the CACNA1A gene. It does not directly change the encoded amino acid sequence of the CACNA1A protein.

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