Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191140 | SCV000245549 | uncertain significance | Retinitis pigmentosa 39 | 2013-04-10 | criteria provided, single submitter | clinical testing | This variant was found once in our laboratory with a pathogenic variant [E767fs] and another missense variant [E3448K; phase undetermined] in a 32-year-old female with retinitis pigmentosa. Variant possibly pathogenic in recessive state; heterozygotes would be carriers. |
EGL Genetic Diagnostics, |
RCV000359124 | SCV000339980 | uncertain significance | not provided | 2016-04-04 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765068 | SCV000896268 | uncertain significance | Usher syndrome, type 2A; Retinitis pigmentosa 39 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV001002722 | SCV001156415 | pathogenic | Usher syndrome, type 2A | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000359124 | SCV001217863 | uncertain significance | not provided | 2020-01-03 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with cysteine at codon 2224 of the USH2A protein (p.Gly2224Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs149553844, ExAC 0.08%). This variant has been observed in individuals affected with USH2A-related retinopathy (PMID: 25412400, 27160483). In more than one individual, this variant occurred with two additional USH2A variants, making the contribution of p.Gly2224Cys unclear (PMID: 27160483, PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 209202). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
Blueprint Genetics | RCV001073314 | SCV001238852 | uncertain significance | Retinal dystrophy | 2018-11-09 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000504652 | SCV000598823 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |