ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His)

gnomAD frequency: 0.00005  dbSNP: rs373762102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434754 SCV000522218 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing The R1150H variant in the CACNA1H gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1150H variant was not observed at any significant frequency in approximately 5,600 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1150H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R1150H as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001298615 SCV001487676 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519540 SCV003542151 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.3449G>A (p.R1150H) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 3449, causing the arginine (R) at amino acid position 1150 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238992 SCV005885335 uncertain significance not specified 2025-02-24 criteria provided, single submitter clinical testing Variant summary: CACNA1H c.3449G>A (p.Arg1150His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.7e-05 in 146750 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.3449G>A in individuals affected with Idiopathic Generalized Epilepsy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 382313). Based on the evidence outlined above, the variant was classified as uncertain significance.

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