ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2113G>A (p.Val705Ile)

gnomAD frequency: 0.00003  dbSNP: rs148788573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264580 SCV002543259 uncertain significance Autoinflammatory syndrome 2021-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003774812 SCV004604228 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2025-01-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 705 of the CARD14 protein (p.Val705Ile). This variant is present in population databases (rs148788573, gnomAD 0.01%). This missense change has been observed in individual(s) with generalized pustular psoriasis (PMID: 36348983). ClinVar contains an entry for this variant (Variation ID: 1694234). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CARD14 protein function with a negative predictive value of 95%. 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.

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