ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val)

gnomAD frequency: 0.00012  dbSNP: rs72552053
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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 RCV000635009 SCV000756387 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-04-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704145 SCV005216891 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004965613 SCV005552816 uncertain significance Inborn genetic diseases 2024-07-17 criteria provided, single submitter clinical testing The c.5825C>T (p.A1942V) 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 5825, causing the alanine (A) at amino acid position 1942 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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