ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1583T>C (p.Leu528Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002634955 SCV002965924 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-10-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 not expected to disrupt CARD14 protein function. This missense change has been observed in individual(s) with familial Mediterranean fever (PMID: 32199921). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 528 of the CARD14 protein (p.Leu528Pro).

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