ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.843G>A (p.Leu281=)

dbSNP: rs1332503520
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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 RCV000791788 SCV000931051 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2019-06-21 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CARD14-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 281 of the CARD14 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CARD14 protein. This variant also falls at the last nucleotide of exon 5 of the CARD14 coding sequence, which is part of the consensus splice site for this exon.

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