ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2489T>C (p.Val830Ala)

gnomAD frequency: 0.00001  dbSNP: rs772155622
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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 RCV001889203 SCV002157709 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-08-09 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: "Deleterious"; PolyPhen-2: "Probably 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. ClinVar contains an entry for this variant (Variation ID: 1389355). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs772155622, gnomAD 0.005%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 830 of the CARD14 protein (p.Val830Ala).

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