Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003688867 | SCV004433013 | likely pathogenic | not provided | 2023-04-14 | criteria provided, single submitter | clinical testing | 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. This variant disrupts the p.Gly4340 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27460420, 30073356). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 522486). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 4340 of the USH2A protein (p.Gly4340Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000625628 | SCV000746129 | likely pathogenic | Retinitis pigmentosa 39 | 2017-09-18 | no assertion criteria provided | clinical testing |