ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.356T>C (p.Met119Thr)

dbSNP: rs1598639584
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817174 SCV000957720 likely pathogenic Pityriasis rubra pilaris; Psoriasis 2 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 119 of the CARD14 protein (p.Met119Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of pityriasis rubra pilaris (PMID: 29477734, 34004138, 34448248). ClinVar contains an entry for this variant (Variation ID: 660052). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CARD14 protein function with a negative predictive value of 95%. Experimental studies have shown that this missense change affects CARD14 function (PMID: 34004138). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Yale Center for Mendelian Genomics, Yale University RCV000845188 SCV000987124 pathogenic Papulosquamous eruptions 2018-03-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.