ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn)

gnomAD frequency: 0.00001  dbSNP: rs950950885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699584 SCV000828302 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-03-14 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 839 of the CARD14 protein (p.Lys839Asn). 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. 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. ClinVar contains an entry for this variant (Variation ID: 576948). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is not present in population databases (gnomAD no frequency).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263941 SCV002543276 uncertain significance Autoinflammatory syndrome 2016-12-20 criteria provided, single submitter clinical testing

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