ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1875C>A (p.Ser625=)

dbSNP: rs138416850
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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 RCV002008270 SCV002276204 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2020-10-30 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 present in population databases (rs138416850, ExAC 0.03%). This sequence change affects codon 625 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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