ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp)

gnomAD frequency: 0.00032  dbSNP: rs142306293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635032 SCV000756410 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000991764 SCV001143473 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782480 SCV005394989 uncertain significance not specified 2024-09-10 criteria provided, single submitter clinical testing Variant summary: CACNA1H c.2264G>A (p.Gly755Asp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00025 in 234368 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in CACNA1H causing Idiopathic Generalized Epilepsy, allowing no conclusion about variant significance. c.2264G>A has been reported in the literature in individual(s) affected with Idiopathic Generalized Epilepsy without association with a specific epilepsy phenotype (Heron_2004). These report(s) do not provide unequivocal conclusions about association of the variant with Idiopathic Generalized Epilepsy. At least one publication reports experimental evidence evaluating an impact on protein function (Khosravani_2005). These results showed no damaging effect of this variant. The following publications have been ascertained in the context of this evaluation (PMID: 15048902, 15852375). ClinVar contains an entry for this variant (Variation ID: 529573). Based on the evidence outlined above, the variant was classified as uncertain significance.
GenomeConnect - Brain Gene Registry RCV001861661 SCV002107396 not provided Epilepsy, childhood absence, susceptibility to, 6 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 2/21/2020 by Lab or GTR ID 500057. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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