Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000585361 | SCV000693122 | pathogenic | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV001265185 | SCV001443215 | likely pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000585361 | SCV001590838 | pathogenic | not provided | 2022-02-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects RHO function (PMID: 30977563). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 493373). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 20164459). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 131 of the RHO protein (p.Leu131Pro). |