ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg)

gnomAD frequency: 0.00022  dbSNP: rs200606995
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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 RCV000951819 SCV001098258 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547225 SCV003683025 uncertain significance Inborn genetic diseases 2024-03-28 criteria provided, single submitter clinical testing The c.6721G>A (p.G2241R) 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 6721, causing the glycine (G) at amino acid position 2241 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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