Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632890 | SCV000754095 | uncertain significance | Pityriasis rubra pilaris; Psoriasis 2 | 2023-11-20 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 602 of the CARD14 protein (p.Ser602Leu). This variant is present in population databases (rs201285077, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with plaque-type psoriasis (PMID: 26358359). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 527869). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CARD14 protein function with a positive predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CARD14 function (PMID: 26358359). 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. |
Fulgent Genetics, |
RCV000632890 | SCV000895140 | uncertain significance | Pityriasis rubra pilaris; Psoriasis 2 | 2022-04-12 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811127 | SCV001470768 | uncertain significance | not provided | 2019-09-27 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001811127 | SCV002541447 | uncertain significance | not provided | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263852 | SCV002543241 | uncertain significance | Autoinflammatory syndrome | 2021-02-23 | criteria provided, single submitter | clinical testing |