ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg)

gnomAD frequency: 0.00004  dbSNP: rs768565046
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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 RCV000819992 SCV000960684 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-03-30 criteria provided, single submitter clinical testing
GeneDx RCV001759603 SCV002007774 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002537454 SCV003730171 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.1985A>G (p.H662R) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a A to G substitution at nucleotide position 1985, causing the histidine (H) at amino acid position 662 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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