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

gnomAD frequency: 0.00003  dbSNP: rs766274599

Total submissions: 3

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