ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.484C>G (p.Leu162Val)

dbSNP: rs1180184443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047729 SCV001211709 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-06-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CARD14-related conditions. 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: 844790). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 162 of the CARD14 protein (p.Leu162Val).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264157 SCV002543315 uncertain significance Autoinflammatory syndrome 2019-09-01 criteria provided, single submitter clinical testing

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