ClinVar

Description

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 AVPR2 protein function. 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. This variant disrupts the p.Gly107 amino acid residue in AVPR2. Other variant(s) that disrupt this residue have been observed in individuals with AVPR2-related conditions (PMID: 21917732, 24790307), which suggests that this may be a clinically significant amino acid residue. This missense change has been observed in individual(s) with congenital nephrogenic diabetes insipidus (PMID: 9402087). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 107 of the AVPR2 protein (p.Gly107Glu).