ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2255C>T (p.Pro752Leu)

gnomAD frequency: 0.00005  dbSNP: rs761877111
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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 RCV000635057 SCV000756435 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782481 SCV005394775 uncertain significance not specified 2024-09-24 criteria provided, single submitter clinical testing Variant summary: CACNA1H c.2255C>T (p.Pro752Leu) 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 6.4e-05 in 234162 control chromosomes in the gnomAD database, including 1 homozygotes. This frequency is not significantly higher than estimated for a pathogenic variant in CACNA1H causing Idiopathic Generalized Epilepsy, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2255C>T in individuals affected with Idiopathic Generalized Epilepsy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 529598). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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