ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)

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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 RCV003810445 SCV004610392 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-12 criteria provided, single submitter clinical testing This variant, c.174_176del, results in the deletion of 1 amino acid(s) of the CACNA1A protein (p.Met59del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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