ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2350A>G (p.Ile784Val)

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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 RCV002780016 SCV003027945 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-05-31 criteria provided, single submitter clinical testing This variant is present in population databases (rs771335853, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 784 of the CARD11 protein (p.Ile784Val).

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