ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1499G>C (p.Ser500Thr)

gnomAD frequency: 0.00004  dbSNP: rs369200145
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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 RCV000818482 SCV000959097 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 500 of the CARD14 protein (p.Ser500Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant also falls at the last nucleotide of exon 10, which is part of the consensus splice site for this exon. This variant is present in population databases (rs369200145, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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