ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)

gnomAD frequency: 0.00005  dbSNP: rs755099305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000260147 SCV000343001 uncertain significance not provided 2016-07-08 criteria provided, single submitter clinical testing
Invitae RCV001044457 SCV001208255 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235180 SCV003934736 uncertain significance not specified 2023-05-01 criteria provided, single submitter clinical testing Variant summary: CACNA1A c.6773C>T (p.Ala2258Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 197196 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.6773C>T in individuals affected with Epileptic Encephalopathy, Early Infantile, 42 and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters have assessed the variant since 2014: one classified the variant as likely benign, and one as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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