ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)

gnomAD frequency: 0.00002  dbSNP: rs760918600
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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 RCV000796645 SCV000936166 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495050 SCV002778919 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534605 SCV003731983 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.6838C>T (p.P2280S) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 6838, causing the proline (P) at amino acid position 2280 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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