ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.571G>T (p.Val191Leu)

gnomAD frequency: 0.00001  dbSNP: rs281875218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854255 SCV002144146 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2021-08-19 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 191 of the CARD14 protein (p.Val191Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with psoriasis (PMID: 22521419). ClinVar contains an entry for this variant (Variation ID: 68784). 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. Experimental studies have shown that this missense change does not substantially affect CARD14 function (PMID: 22521419). 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.
UniProtKB/Swiss-Prot RCV000059705 SCV000091275 not provided not provided no assertion provided not provided

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