ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val)

gnomAD frequency: 0.00003  dbSNP: rs774773999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819027 SCV000959668 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2018-07-11 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 1383 of the CACNA1H protein (p.Met1383Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs774773999, ExAC 0.009%). This variant has not been reported in the literature in individuals with CACNA1H-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002487820 SCV002781351 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243342 SCV003965180 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.4147A>G (p.M1383V) alteration is located in exon 21 (coding exon 20) of the CACNA1H gene. This alteration results from a A to G substitution at nucleotide position 4147, causing the methionine (M) at amino acid position 1383 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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