ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met)

gnomAD frequency: 0.00006  dbSNP: rs755669926
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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 RCV002105624 SCV002396626 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003348798 SCV004051765 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.6412G>A (p.V2138M) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 6412, causing the valine (V) at amino acid position 2138 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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