ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro)

dbSNP: rs2141277907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903433 SCV002169138 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-05-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1404851). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 685 of the CACNA1H protein (p.Leu685Pro). 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.
GeneDx RCV003320855 SCV004025887 uncertain significance not provided 2023-02-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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