Submissions for variant NM_001366385.1(CARD14):c.16C>T (p.Arg6Cys)

gnomAD frequency: 0.00027  dbSNP: rs559363898

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001042020	SCV001205678	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 6 of the CARD14 protein (p.Arg6Cys). This variant is present in population databases (rs559363898, gnomAD 0.04%), 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: 840109). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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	RCV002264152	SCV002543238	uncertain significance	Autoinflammatory syndrome	2022-01-24	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV003480916	SCV004224441	uncertain significance	not provided	2022-08-08	criteria provided, single submitter	clinical testing	BP4