ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.877G>A (p.Glu293Lys)

gnomAD frequency: 0.00001  dbSNP: rs775291378
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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 RCV000794213 SCV000933607 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-11-03 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 641060). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs775291378, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 293 of the CARD14 protein (p.Glu293Lys).

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