ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.496C>T (p.Arg166Cys)

gnomAD frequency: 0.00010  dbSNP: rs751727290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798794 SCV000938426 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2024-01-13 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 166 of the CARD14 protein (p.Arg166Cys). This variant is present in population databases (rs751727290, gnomAD 0.01%). 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: 644802). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263990 SCV002543316 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002538006 SCV003599274 uncertain significance Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing The c.496C>T (p.R166C) alteration is located in exon 4 (coding exon 3) of the CARD14 gene. This alteration results from a C to T substitution at nucleotide position 496, causing the arginine (R) at amino acid position 166 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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