Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003591677 | SCV004293320 | uncertain significance | PRPH2-Related Disorders | 2023-01-21 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this missense change affects PRPH2 function (PMID: 27033727). 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 PRPH2 protein function. ClinVar contains an entry for this variant (Variation ID: 98710). This missense change has been observed in individual(s) with adult vitelliform macular dystrophy (PMID: 9338584). This variant is present in population databases (rs62645936, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 268 of the PRPH2 protein (p.Val268Ile). |
| Retina International | RCV000085023 | SCV000117159 | not provided | not provided | no assertion provided | not provided | ||
| Leiden Open Variation Database | RCV000085023 | SCV001745000 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |