ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)

gnomAD frequency: 0.00083  dbSNP: rs186422070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087150 SCV000632209 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000544698 SCV001143483 benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527712 SCV003721135 uncertain significance Inborn genetic diseases 2022-11-01 criteria provided, single submitter clinical testing The c.5924C>T (p.S1975F) alteration is located in exon 34 (coding exon 33) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 5924, causing the serine (S) at amino acid position 1975 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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