ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1673G>A (p.Arg558Gln)

gnomAD frequency: 0.00002  dbSNP: rs745339472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341628 SCV001535510 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 558 of the CARD14 protein (p.Arg558Gln). This variant is present in population databases (rs745339472, gnomAD 0.06%). 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: 1038335). 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%. 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 RCV003346495 SCV004061284 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.1673G>A (p.R558Q) alteration is located in exon 13 (coding exon 12) of the CARD14 gene. This alteration results from a G to A substitution at nucleotide position 1673, causing the arginine (R) at amino acid position 558 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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