ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.536G>A (p.Arg179His)

gnomAD frequency: 0.00027  dbSNP: rs199517469
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691452 SCV000819230 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 179 of the CARD14 protein (p.Arg179His). 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 missense change has been observed in individual(s) with psoriasis (PMID: 22521419, 25989471, 28887889). ClinVar contains an entry for this variant (Variation ID: 68783). 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%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CARD14 function (PMID: 22521419). 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 RCV002262617 SCV002543319 uncertain significance Autoinflammatory syndrome 2018-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000691452 SCV002788177 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000059704 SCV004224443 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing BP4
UniProtKB/Swiss-Prot RCV000059704 SCV000091274 not provided not provided no assertion provided not provided

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