Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000984903 | SCV002160118 | uncertain significance | CHARGE syndrome | 2021-05-26 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CHD7 protein function. This variant has not been reported in the literature in individuals with CHD7-related conditions. ClinVar contains an entry for this variant (Variation ID: 800744). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 2915 of the CHD7 protein (p.Gly2915Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. |
Biochemical Molecular Genetic Laboratory, |
RCV000984903 | SCV001132807 | uncertain significance | CHARGE syndrome | 2019-01-29 | no assertion criteria provided | clinical testing |