ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.881C>T (p.Ala294Val)

gnomAD frequency: 0.00013  dbSNP: rs139466192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513145 SCV000608839 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534114 SCV000629257 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 294 of the CARD14 protein (p.Ala294Val). This variant is present in population databases (rs139466192, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. ClinVar contains an entry for this variant (Variation ID: 444417). 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%. 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 RCV002263719 SCV002543337 uncertain significance Autoinflammatory syndrome 2022-03-17 criteria provided, single submitter clinical testing

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