ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys)

dbSNP: rs370725735
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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 RCV001202602 SCV001373719 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 1336 of the CACNA1H protein (p.Thr1336Lys). This variant is present in population databases (rs370725735, gnomAD 0.004%). 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: 934249). 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 expected to disrupt CACNA1H protein function with a positive predictive value of 80%. 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 RCV002484086 SCV002802048 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-30 criteria provided, single submitter clinical testing

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