ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del)

dbSNP: rs1568719711
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692541 SCV000820368 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-29 criteria provided, single submitter clinical testing This variant, c.235_237del, results in the deletion of 1 amino acid(s) of the CACNA1A protein (p.Phe79del), 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. ClinVar contains an entry for this variant (Variation ID: 571404). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the CACNA1A protein in which other variant(s) (p.Phe79) have been observed in individuals with CACNA1A-related conditions (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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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