ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1752C>T (p.Arg584=)

dbSNP: rs1583385554
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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 RCV000806169 SCV000946154 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2018-12-18 criteria provided, single submitter clinical testing This sequence change affects codon 584 of the CARD11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CARD11 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CARD11-related conditions. 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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