ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys)

gnomAD frequency: 0.00003  dbSNP: rs774769004
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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 RCV000635019 SCV000756397 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002529829 SCV003727759 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The c.6295G>A (p.E2099K) 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 6295, causing the glutamic acid (E) at amino acid position 2099 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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