ClinVar Miner

Submissions for variant NM_001572.5(IRF7):c.1088G>A (p.Gly363Glu)

gnomAD frequency: 0.00001  dbSNP: rs1280048947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001051260 SCV001215405 uncertain significance Immunodeficiency 39 2022-07-12 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 847664). 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 glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 376 of the IRF7 protein (p.Gly376Glu).
Ambry Genetics RCV004031591 SCV003894543 uncertain significance not specified 2023-02-07 criteria provided, single submitter clinical testing The c.1127G>A (p.G376E) alteration is located in exon 7 (coding exon 7) of the IRF7 gene. This alteration results from a G to A substitution at nucleotide position 1127, causing the glycine (G) at amino acid position 376 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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