Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634427 | SCV000755732 | uncertain significance | CHARGE association | 2018-01-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with arginine at codon 161 of the CHD7 protein (p.Gln161Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs755340969, ExAC 0.009%). This variant has not been reported in the literature in individuals with CHD7-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: "Benign"; 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. |