ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2626G>C (p.Glu876Gln)

dbSNP: rs746358733
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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 RCV001344014 SCV001538042 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1040385). 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 disruptive. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs746358733, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 876 of the CARD14 protein (p.Glu876Gln).

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