ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.670G>A (p.Glu224Lys)

gnomAD frequency: 0.00001  dbSNP: rs1255334150
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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 RCV001351176 SCV001545618 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2020-05-20 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CARD14-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glutamic acid with lysine at codon 224 of the CARD14 protein (p.Glu224Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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