ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1468G>A (p.Glu490Lys)

gnomAD frequency: 0.00003  dbSNP: rs372805579
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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 RCV002264572 SCV002543228 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV003774811 SCV004572768 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 490 of the CARD14 protein (p.Glu490Lys). This variant is present in population databases (rs372805579, gnomAD 0.007%). 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: 1694226). 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.

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