ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1394G>A (p.Arg465His)

gnomAD frequency: 0.00003  dbSNP: rs746351148
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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 RCV001218590 SCV001390478 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2019-06-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 465 of the CARD14 protein (p.Arg465His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs746351148, ExAC 0.01%). This variant has not been reported in the literature in individuals with CARD14-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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