ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.442G>A (p.Val148Met)

gnomAD frequency: 0.00003  dbSNP: rs766274599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541293 SCV002952377 uncertain significance Immunodeficiency 28 2023-08-30 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. 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 expected to disrupt IFNGR2 protein function. ClinVar contains an entry for this variant (Variation ID: 1328212). This variant has not been reported in the literature in individuals affected with IFNGR2-related conditions. This variant is present in population databases (rs766274599, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 148 of the IFNGR2 protein (p.Val148Met).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001795648 SCV002035002 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795648 SCV002037639 uncertain significance not provided no assertion criteria provided clinical testing

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