ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg)

dbSNP: rs774748739
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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 RCV001257211 SCV001433739 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-04-30 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 71 of the CACNA1H protein (p.Pro71Arg). This variant is not present in population databases (gnomAD no frequency). 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: 978518). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1H protein function. 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 RCV002480875 SCV002791644 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035371 SCV004915125 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.212C>G (p.P71R) alteration is located in exon 2 (coding exon 1) of the CACNA1H gene. This alteration results from a C to G substitution at nucleotide position 212, causing the proline (P) at amino acid position 71 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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