ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2674G>C (p.Glu892Gln)

gnomAD frequency: 0.00006  dbSNP: rs770592418
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 RCV001917972 SCV002170753 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2021-08-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 892 of the CARD14 protein (p.Glu892Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs770592418, ExAC 0.2%). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. 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. 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.
Ambry Genetics RCV003303338 SCV003994659 uncertain significance Inborn genetic diseases 2023-05-18 criteria provided, single submitter clinical testing The c.2674G>C (p.E892Q) alteration is located in exon 19 (coding exon 18) of the CARD14 gene. This alteration results from a G to C substitution at nucleotide position 2674, causing the glutamic acid (E) at amino acid position 892 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.