ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His)

gnomAD frequency: 0.00002  dbSNP: rs769636919
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753346 SCV002007388 uncertain significance not provided 2021-02-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868730 SCV002135719 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540682 SCV003605787 uncertain significance Inborn genetic diseases 2022-03-25 criteria provided, single submitter clinical testing The c.1421G>A (p.R474H) alteration is located in exon 9 (coding exon 8) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 1421, causing the arginine (R) at amino acid position 474 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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