Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815302 | SCV000955751 | uncertain significance | Pityriasis rubra pilaris; Psoriasis 2 | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 986 of the CARD14 protein (p.Arg986Cys). This variant is present in population databases (rs112478200, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. ClinVar contains an entry for this variant (Variation ID: 658473). 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 not expected to disrupt CARD14 protein function. 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. |
Mayo Clinic Laboratories, |
RCV001507393 | SCV001712925 | uncertain significance | not provided | 2020-06-09 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264010 | SCV002543302 | likely benign | Autoinflammatory syndrome | 2020-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534865 | SCV003529366 | uncertain significance | Inborn genetic diseases | 2021-07-09 | criteria provided, single submitter | clinical testing | The c.2956C>T (p.R986C) alteration is located in exon 21 (coding exon 20) of the CARD14 gene. This alteration results from a C to T substitution at nucleotide position 2956, causing the arginine (R) at amino acid position 986 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |