ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val)

gnomAD frequency: 0.00001  dbSNP: rs59950911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218851 SCV001390755 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284069 SCV003968024 uncertain significance Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing The c.5797A>G (p.M1933V) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a A to G substitution at nucleotide position 5797, causing the methionine (M) at amino acid position 1933 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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