ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.433C>A (p.Gln145Lys)

gnomAD frequency: 0.00004  dbSNP: rs781101097
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050735 SCV001214856 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-11-08 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 145 of the CARD14 protein (p.Gln145Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 847232). 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 not expected to disrupt CARD14 protein function with a negative 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 RCV002264163 SCV002543311 uncertain significance Autoinflammatory syndrome 2021-02-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413851 SCV004115541 uncertain significance CARD14-related disorder 2022-11-14 criteria provided, single submitter clinical testing The CARD14 c.433C>A variant is predicted to result in the amino acid substitution p.Gln145Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0060% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-78157795-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV003480927 SCV004224442 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing BP4

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