Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075883 | SCV001241524 | likely pathogenic | Retinal dystrophy | 2019-08-15 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV001265191 | SCV001443224 | likely pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001321723 | SCV001512567 | likely pathogenic | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 178 of the RHO protein (p.Tyr178His). This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Tyr178 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1862076, 25221422, 29847639, 30240733, 30718709). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 867225). This missense change has been observed in individuals with clinical features of autosomal dominant retinitis pigmentosa (PMID: 32037395; Invitae). |