ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)

gnomAD frequency: 0.00024  dbSNP: rs372367313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001475494 SCV001679684 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-08-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499055 SCV002799498 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258896 SCV003947144 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.1754C>T (p.P585L) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 1754, causing the proline (P) at amino acid position 585 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003441982 SCV004168037 uncertain significance not provided 2023-04-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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