Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729715 | SCV000857401 | uncertain significance | not provided | 2017-10-06 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000778676 | SCV000915016 | uncertain significance | Retinitis pigmentosa | 2017-08-23 | criteria provided, single submitter | clinical testing | The RHO c.759G>T (p.Met253Ile) missense variant was reported in a homozygous state in one Turkish individual who was born of a consanguineous marriage and displayed typical retinitis pigmentosa (RP) with cystoid maculopathy (Collin et al. 2011). Both parents were heterozygous carriers of the variant and showed no symptoms of RP, indicating a recessive inheritance pattern. The p.Met253Ile variant was not found in 180 ethnically matched control alleles and is reported at a frequency of 0.000063 in the European (non-Finnish) population of the Genome Aggregation Database. The variant is located in a well-conserved residue in the sixth transmembrane domain of the protein. Based on the limited available evidence, the p.Arg77Gln variant is classified as a variant of unknown significance but suspicious for pathogenicity for nonsyndromic retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV000729715 | SCV001221519 | uncertain significance | not provided | 2022-09-19 | criteria provided, single submitter | clinical testing | 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on RHO function (PMID: 30977563). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RHO protein function. ClinVar contains an entry for this variant (Variation ID: 594435). This missense change has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 21217109). This variant is present in population databases (rs756658659, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 253 of the RHO protein (p.Met253Ile). |
Centre for Mendelian Genomics, |
RCV001196773 | SCV001367406 | likely pathogenic | Pigmentary retinal dystrophy | 2018-10-15 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP3. |
Centre for Genomic Medicine, |
RCV001265204 | SCV001443242 | likely pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000729715 | SCV001552339 | uncertain significance | not provided | no assertion criteria provided | clinical testing |