Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001342903 | SCV001536853 | uncertain significance | Pityriasis rubra pilaris; Psoriasis 2 | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1002 of the CARD14 protein (p.Ser1002Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1039431). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Ambry Genetics | RCV004036376 | SCV004920235 | uncertain significance | Inborn genetic diseases | 2023-12-09 | criteria provided, single submitter | clinical testing | The c.3006C>A (p.S1002R) alteration is located in exon 21 (coding exon 20) of the CARD14 gene. This alteration results from a C to A substitution at nucleotide position 3006, causing the serine (S) at amino acid position 1002 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |