Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001239090 | SCV001411937 | uncertain significance | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2021-10-14 | criteria provided, single submitter | clinical testing | This sequence change affects codon 188 of the RPGRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPGRIP1 protein. This variant is present in population databases (rs574462207, ExAC 0.003%). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 28714225). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 427869). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
| Rui Chen Lab, |
RCV000515682 | SCV000579426 | pathogenic | Leber congenital amaurosis | 2017-05-09 | no assertion criteria provided | research |