ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1805C>T (p.Ser602Leu)

gnomAD frequency: 0.00031  dbSNP: rs201285077
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632890 SCV000754095 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-11-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 602 of the CARD14 protein (p.Ser602Leu). This variant is present in population databases (rs201285077, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with plaque-type psoriasis (PMID: 26358359). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 527869). 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: 26358359). 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.
Fulgent Genetics, Fulgent Genetics RCV000632890 SCV000895140 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-04-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811127 SCV001470768 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001811127 SCV002541447 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263852 SCV002543241 uncertain significance Autoinflammatory syndrome 2021-02-23 criteria provided, single submitter clinical testing

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