ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.234G>T (p.Lys78Asn)

gnomAD frequency: 0.00021  dbSNP: rs143747620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632887 SCV000754092 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 78 of the CARD14 protein (p.Lys78Asn). This variant is present in population databases (rs143747620, gnomAD 0.04%), 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: 527867). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CARD14 protein function. 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 RCV002263851 SCV002543269 uncertain significance Autoinflammatory syndrome 2022-01-12 criteria provided, single submitter clinical testing

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