ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2397T>A (p.Asp799Glu)

dbSNP: rs766040946
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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 RCV002013113 SCV002295814 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2021-06-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CARD11-related conditions. 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glutamic acid at codon 799 of the CARD11 protein (p.Asp799Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.

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