Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234820 | SCV001407480 | uncertain significance | not provided | 2023-07-10 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 85 of the ARSG protein (p.Ser85Pro). This variant is present in population databases (rs141748845, gnomAD 0.002%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 33300174). ClinVar contains an entry for this variant (Variation ID: 961169). 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 ARSG 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. |
Division of Genetic Medicine, |
RCV001281351 | SCV001451722 | pathogenic | Usher syndrome, type 4 | 2020-12-23 | no assertion criteria provided | clinical testing | |
OMIM | RCV001281351 | SCV001572339 | pathogenic | Usher syndrome, type 4 | 2023-01-21 | no assertion criteria provided | literature only |