ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.497G>A (p.Arg166His)

dbSNP: rs1005134219
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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 RCV002011673 SCV002298862 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-03-14 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with psoriasis (PMID: 24999592). 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 sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 166 of the CARD14 protein (p.Arg166His). ClinVar contains an entry for this variant (Variation ID: 1510314). 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.

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