ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr)

gnomAD frequency: 0.00001  dbSNP: rs538251591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793667 SCV000933031 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 825 of the CARD14 protein (p.Ala825Thr). This variant is present in population databases (rs538251591, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with pustular psoriasis (PMID: 30387497). ClinVar contains an entry for this variant (Variation ID: 640610). 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 not expected to disrupt CARD14 protein function with a negative predictive value of 80%. 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 RCV002263982 SCV002543273 uncertain significance Autoinflammatory syndrome 2018-04-01 criteria provided, single submitter clinical testing

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