ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2773G>A (p.Val925Ile)

gnomAD frequency: 0.00019  dbSNP: rs372586928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805372 SCV000945326 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 925 of the CARD14 protein (p.Val925Ile). This variant is present in population databases (rs372586928, 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: 650257). 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 RCV002263995 SCV002543287 likely benign Autoinflammatory syndrome 2020-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003344061 SCV004052838 likely benign Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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