ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.233A>C (p.Lys78Thr)

dbSNP: rs2144164269
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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 RCV002024236 SCV002307882 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2021-01-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 78 of the CARD14 protein (p.Lys78Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CARD14-related conditions. This variant is not present in population databases (ExAC no frequency).

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