Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001955360 | SCV002215329 | uncertain significance | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 146 of the IFNAR2 protein (p.Asn146Ser). This variant is present in population databases (rs549962048, gnomAD 0.05%). 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: 1436863). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 | RCV004042966 | SCV003998353 | uncertain significance | not specified | 2023-05-09 | criteria provided, single submitter | clinical testing | The c.437A>G (p.N146S) alteration is located in exon 6 (coding exon 5) of the IFNAR2 gene. This alteration results from a A to G substitution at nucleotide position 437, causing the asparagine (N) at amino acid position 146 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Al Jalila Children's Genomics Center, |
RCV003120761 | SCV003798471 | likely risk allele | Susceptibility to severe COVID-19 | 2022-07-01 | no assertion criteria provided | research |