ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His)

gnomAD frequency: 0.00004  dbSNP: rs747789914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711109 SCV000841437 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001203198 SCV001374350 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 585648). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (rs747789914, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1721 of the CACNA1H protein (p.Arg1721His).
Fulgent Genetics, Fulgent Genetics RCV002507244 SCV002816642 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303202 SCV003993780 uncertain significance Inborn genetic diseases 2023-03-17 criteria provided, single submitter clinical testing The c.5162G>A (p.R1721H) alteration is located in exon 29 (coding exon 28) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 5162, causing the arginine (R) at amino acid position 1721 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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