ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.540-20T>C

gnomAD frequency: 0.00002  dbSNP: rs756413933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002134411 SCV002458586 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403716 SCV004122930 likely benign not specified 2023-10-16 criteria provided, single submitter clinical testing Variant summary: CACNA1A c.540-20T>C alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 5.5e-05 in 164796 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.540-20T>C in individuals affected with Epileptic Encephalopathy, Early Infantile, 42 and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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