Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004145 | SCV001162879 | pathogenic | Usher syndrome type 2A | criteria provided, single submitter | clinical testing | ||
Blueprint Genetics | RCV001073611 | SCV001239162 | pathogenic | Retinal dystrophy | 2019-07-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001091130 | SCV001246996 | pathogenic | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001091130 | SCV001590416 | pathogenic | not provided | 2024-05-23 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2752 of the USH2A protein (p.Gly2752Arg). This variant is present in population databases (rs201863550, gnomAD 0.02%). This missense change has been observed in individual(s) with retinitis pigmentosa and Usher syndrome (PMID: 21569298, 26806561, 27596865, 28678594, 29625443, 30459346). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 636127). 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 expected to disrupt USH2A protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001091130 | SCV002021607 | likely pathogenic | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226391 | SCV003922471 | pathogenic | Usher syndrome | 2023-03-06 | criteria provided, single submitter | clinical testing | Variant summary: USH2A c.8254G>A (p.Gly2752Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 247260 control chromosomes. c.8254G>A has been reported in the literature in multiple individuals affected with Usher Syndrome or retinitis pigmentosa. These data indicate that the variant is very likely to be associated with disease. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Genome- |
RCV003453626 | SCV004182825 | likely pathogenic | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001004145 | SCV004182826 | likely pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003453626 | SCV004208165 | pathogenic | Retinitis pigmentosa 39 | 2024-03-16 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV001073611 | SCV004707928 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV005012311 | SCV005639061 | likely pathogenic | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2024-02-07 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV000787741 | SCV000926745 | likely pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research |