ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7206G>A (p.Pro2402=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479619 SCV004223106 uncertain significance not specified 2023-11-22 criteria provided, single submitter clinical testing Variant summary: CACNA1A c.*418G>A is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 5.3e-06 in 1326160 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.*418G>A in individuals affected with Early Infantile Epileptic Encephalopathy or Episodic Ataxia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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