ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1836C>T (p.Gly612=)

gnomAD frequency: 0.00002  dbSNP: rs758753920
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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 RCV001207939 SCV001379307 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2020-02-20 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. 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. This variant has not been reported in the literature in individuals with CARD14-related conditions. This variant is present in population databases (rs758753920, ExAC 0.006%). This sequence change affects codon 612 of the CARD14 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CARD14 protein.

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