ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)

gnomAD frequency: 0.00038  dbSNP: rs187225648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893370 SCV001037298 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501483 SCV002810118 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539411 SCV003698363 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.2146G>A (p.G716S) alteration is located in exon 10 (coding exon 9) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 2146, causing the glycine (G) at amino acid position 716 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689919 SCV005185907 uncertain significance not specified 2024-05-03 criteria provided, single submitter clinical testing Variant summary: CACNA1H c.2146G>A (p.Gly716Ser) 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 8.2e-05 in 245302 control chromosomes. c.2146G>A has been reported in the literature in individual(s) affected with Epilepsy and was curated as an Likely Benign change (Al Anazi_2022). These report(s) do not provide unequivocal conclusions about association of the variant with Idiopathic Generalized Epilepsy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 36539902). ClinVar contains an entry for this variant (Variation ID: 720109). Based on the evidence outlined above, the variant was classified as uncertain significance.

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