ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2055C>T (p.Gly685=)

dbSNP: rs374351706
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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 RCV001241991 SCV001415050 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2019-11-14 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 CARD11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 685 of the CARD11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CARD11 protein.

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