ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.824G>T (p.Gly275Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003273704 SCV003977145 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.824G>T (p.G275V) alteration is located in exon 6 (coding exon 6) of the IFNGR2 gene. This alteration results from a G to T substitution at nucleotide position 824, causing the glycine (G) at amino acid position 275 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003586400 SCV004279262 uncertain significance Immunodeficiency 28 2023-01-11 criteria provided, single submitter clinical testing 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 IFNGR2 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 IFNGR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 275 of the IFNGR2 protein (p.Gly275Val).

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