Submissions for variant NM_001572.5(IRF7):c.644A>G (p.Gln215Arg)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003823762	SCV004626081	uncertain significance	Immunodeficiency 39	2023-01-25	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 not expected to disrupt IRF7 protein function. This variant has not been reported in the literature in individuals affected with IRF7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 228 of the IRF7 protein (p.Gln228Arg).
Ambry Genetics	RCV004366798	SCV004889373	uncertain significance	not specified	2023-12-11	criteria provided, single submitter	clinical testing	The c.683A>G (p.Q228R) alteration is located in exon 4 (coding exon 4) of the IRF7 gene. This alteration results from a A to G substitution at nucleotide position 683, causing the glutamine (Q) at amino acid position 228 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.