ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.1178G>A (p.Gly393Glu)

dbSNP: rs1449154331
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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 RCV002627725 SCV002978180 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 393 of the IFNAR2 protein (p.Gly393Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IFNAR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1937668). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV004927841 SCV005604135 uncertain significance not specified 2024-10-07 criteria provided, single submitter clinical testing The c.1178G>A (p.G393E) alteration is located in exon 9 (coding exon 8) of the IFNAR2 gene. This alteration results from a G to A substitution at nucleotide position 1178, causing the glycine (G) at amino acid position 393 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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