Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060442 | SCV001225129 | pathogenic | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 3607 of the USH2A protein (p.His3607Pro). This variant is present in population databases (rs750321557, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (PMID: 28945494; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 855225). 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 USH2A protein function with a negative predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001060442 | SCV001825871 | likely pathogenic | not provided | 2023-01-11 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28945494) |
Genome- |
RCV003455273 | SCV004182176 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003467808 | SCV004208151 | likely pathogenic | Retinitis pigmentosa 39 | 2023-10-19 | criteria provided, single submitter | clinical testing |