ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=)

gnomAD frequency: 0.00001  dbSNP: rs765072424
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058912 SCV001223511 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-06-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNA1A-related conditions. 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, but this prediction has not been confirmed by published transcriptional studies. This variant is present in population databases (rs765072424, ExAC 0.009%). This sequence change affects codon 212 of the CACNA1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1A protein.

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