ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.478C>G (p.Leu160Val)

gnomAD frequency: 0.00001  dbSNP: rs769988602
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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 RCV001205205 SCV001376446 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-03-19 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 936413). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs769988602, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 160 of the CARD14 protein (p.Leu160Val).
CeGaT Center for Human Genetics Tuebingen RCV001815512 SCV002063663 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing

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