Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001964495 | SCV002135386 | uncertain significance | Lethal multiple pterygium syndrome | 2020-11-23 | 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 expected to disrupt CHRND protein function. This variant has not been reported in the literature in individuals with CHRND-related conditions. This variant is present in population databases (rs752699014, ExAC 0.01%). This sequence change replaces glycine with arginine at codon 121 of the CHRND protein (p.Gly121Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. |