ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.5791G>A (p.Gly1931Ser)

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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 RCV003660384 SCV004380488 benign not provided 2023-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994573 SCV004813820 uncertain significance not specified 2024-02-29 criteria provided, single submitter clinical testing Variant summary: CACNA1E c.5791G>A (p.Gly1931Ser) 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 4e-06 in 249040 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.5791G>A in individuals affected with Epileptic Encephalopathy, Early Infantile, 69 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2784444). Based on the evidence outlined above, the variant was classified as uncertain significance.

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