ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.427A>T (p.Lys143Ter)

dbSNP: rs1562494844
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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 RCV000699944 SCV000828677 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2017-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys143*) in the CARD11 gene. It is expected to result in an absent or disrupted protein product. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CARD11 cause 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. This variant has not been reported in the literature in individuals with CARD11-related disease. This variant is not present in population databases (ExAC no frequency).

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