Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820755 | SCV000961482 | uncertain significance | Dyskeratosis congenita | 2019-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 131 of the CTC1 protein (p.Gly131Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs200137992, ExAC 0.2%). This variant has not been reported in the literature in individuals with CTC1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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. |