ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.683T>G (p.Leu228Arg)

gnomAD frequency: 0.00013  dbSNP: rs142246283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041668 SCV001205294 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2024-01-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 228 of the CARD14 protein (p.Leu228Arg). This variant is present in population databases (rs142246283, gnomAD 0.02%). This missense change has been observed in individual(s) with pityriasis rubra pilaris (PMID: 25734815). ClinVar contains an entry for this variant (Variation ID: 839822). 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 have shown that this missense change affects CARD14 function (PMID: 25734815). 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 RCV002264150 SCV002543328 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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