ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu)

gnomAD frequency: 0.00002  dbSNP: rs778943919
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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 RCV001222902 SCV001395025 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497759 SCV002776974 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004963241 SCV005552829 uncertain significance Inborn genetic diseases 2024-08-11 criteria provided, single submitter clinical testing The c.6809C>T (p.P2270L) 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 6809, causing the proline (P) at amino acid position 2270 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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