Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001854494 | SCV002212962 | pathogenic | PRPH2-Related Disorders | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln331*) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the PRPH2 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Val332Glu) have been determined to be pathogenic (PMID: 30718709, 32531846). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 98724). This premature translational stop signal has been observed in individual(s) with autosomal dominant pattern dystrophy (PMID: 12045052). This variant is not present in population databases (gnomAD no frequency). |
| Retina International | RCV000085038 | SCV000117174 | not provided | not provided | no assertion provided | not provided | ||
| Leiden Open Variation Database | RCV000085038 | SCV001745205 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. Comment: Variant observed de novo. |