ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6286C>T (p.Pro2096Ser)

dbSNP: rs1179774948
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222814 SCV001394931 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-03-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 2096 of the CACNA1H protein (p.Pro2096Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine.

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