ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.808G>C (p.Glu270Gln)

gnomAD frequency: 0.00001  dbSNP: rs1402074557
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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 RCV000813477 SCV000953838 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-08-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 656951). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CARD11 protein function. 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 affected with CARD11-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 270 of the CARD11 protein (p.Glu270Gln). This variant is not present in population databases (gnomAD no frequency).

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