ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)

gnomAD frequency: 0.00006  dbSNP: rs749054531
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635076 SCV000756454 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483802 SCV002776271 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144407 SCV003828837 uncertain significance Hyperaldosteronism, familial, type IV 2020-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025453 SCV004914949 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.5717C>T (p.P1906L) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 5717, causing the proline (P) at amino acid position 1906 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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