Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052445 | SCV001216655 | uncertain significance | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 529 of the USH2A protein (p.Thr529Pro). This variant is present in population databases (rs201332729, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 848645). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375136 | SCV001572097 | uncertain significance | Hearing impairment | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate, PP3_Supporting |
Gene |
RCV001052445 | SCV001788953 | uncertain significance | not provided | 2022-01-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
DBGen Ocular Genomics | RCV001593221 | SCV001816012 | uncertain significance | Retinitis pigmentosa 39 | 2021-06-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001593221 | SCV004182521 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001277084 | SCV004182522 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277084 | SCV001463881 | uncertain significance | Usher syndrome type 2A | 2020-01-17 | no assertion criteria provided | clinical testing |