ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp)

gnomAD frequency: 0.00001  dbSNP: rs764354954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202570 SCV001373686 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491606 SCV002804093 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033539 SCV004914969 uncertain significance Inborn genetic diseases 2023-09-26 criteria provided, single submitter clinical testing The c.6672G>C (p.E2224D) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to C substitution at nucleotide position 6672, causing the glutamic acid (E) at amino acid position 2224 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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