ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3213dup (p.Ile1072fs)

dbSNP: rs2115023098
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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 RCV001899930 SCV002121472 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2021-06-24 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. 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 creates a premature translational stop signal (p.Ile1072Hisfs*9) in the CARD11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acid(s) of the CARD11 protein.

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