Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001373390 | SCV001570104 | uncertain significance | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2020-08-18 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with IFIH1-related conditions. This variant is present in population databases (rs765738865, ExAC 0.006%). This sequence change replaces glycine with aspartic acid at codon 74 of the IFIH1 protein (p.Gly74Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |