Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213011 | SCV001384624 | uncertain significance | Dyskeratosis congenita | 2019-08-24 | 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CTC1-related conditions. This variant is present in population databases (rs745686555, ExAC 0.004%). This sequence change replaces serine with cysteine at codon 10 of the CTC1 protein (p.Ser10Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. |