ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His)

gnomAD frequency: 0.00045  dbSNP: rs201009269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557187 SCV000632084 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-12-07 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224322 SCV003919755 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-03-30 criteria provided, single submitter clinical testing CACNA1H NM_021098.2 exon 9 p.Arg503His (c.1508G>A): This variant has not been reported in the literature but is present in 0.1% (16/15288) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-1251958-G-A). This variant is present in ClinVar (Variation ID:460048). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV004023824 SCV004915116 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.1508G>A (p.R503H) 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 1508, causing the arginine (R) at amino acid position 503 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004719856 SCV005325888 uncertain significance not provided 2024-02-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35668055)

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