ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu)

gnomAD frequency: 0.00003  dbSNP: rs765757800
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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 RCV001902541 SCV002147397 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503454 SCV002816089 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040671 SCV004914968 uncertain significance Inborn genetic diseases 2024-03-04 criteria provided, single submitter clinical testing The c.6662C>T (p.P2221L) 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 6662, causing the proline (P) at amino acid position 2221 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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