ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1589C>T (p.Thr530Met)

gnomAD frequency: 0.00025  dbSNP: rs373004800
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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 RCV001232742 SCV001405310 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 530 of the CARD14 protein (p.Thr530Met). This variant is present in population databases (rs373004800, 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: 959394). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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