ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) (rs201863550)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
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
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091130 SCV001246996 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV001091130 SCV001590416 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2752 of the USH2A protein (p.Gly2752Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs201863550, ExAC 0.002%). This variant 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 the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 636127). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787741 SCV000926745 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.