Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001854493 | SCV002247282 | pathogenic | PRPH2-Related Disorders | 2021-01-14 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with pattern dystrophy (PMID: 9279751). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 98714). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr285*) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acid(s) of the PRPH2 protein. This variant disrupts the C-terminus of the PRPH2 protein. Other variant(s) that disrupt this region (p.Ser301Argfs*22) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. |
| Retina International | RCV000085027 | SCV000117163 | not provided | not provided | no assertion provided | not provided | ||
| Leiden Open Variation Database | RCV000085027 | SCV001745114 | likely pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |