ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1658+9_1658+11del

dbSNP: rs773281285
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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 RCV000695737 SCV000824253 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2018-06-29 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the CARD14 gene. It does not directly change the encoded amino acid sequence of the CARD14 protein. This variant is present in population databases (rs773281285, ExAC 0.002%). This variant has not been reported in the literature in individuals with CARD14-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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