ClinVar

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 USH2A protein function. ClinVar contains an entry for this variant (Variation ID: 1047736). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (Invitae). This variant is present in population databases (rs767712486, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 4132 of the USH2A protein (p.Leu4132Pro).