ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)

gnomAD frequency: 0.00021  dbSNP: rs59103647
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542428 SCV000632226 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764022 SCV000894974 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527713 SCV003684372 uncertain significance Inborn genetic diseases 2021-06-21 criteria provided, single submitter clinical testing The c.6625G>C (p.A2209P) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to C substitution at nucleotide position 6625, causing the alanine (A) at amino acid position 2209 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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