ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg)

gnomAD frequency: 0.00004  dbSNP: rs372601783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687780 SCV000815366 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1781 of the CACNA1H protein (p.Pro1781Arg). This variant is present in population databases (rs372601783, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. ClinVar contains an entry for this variant (Variation ID: 567636). 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. 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 RCV000764018 SCV000894970 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243251 SCV003951619 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.5342C>G (p.P1781R) alteration is located in exon 32 (coding exon 31) of the CACNA1H gene. This alteration results from a C to G substitution at nucleotide position 5342, causing the proline (P) at amino acid position 1781 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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