ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)

dbSNP: rs747160949
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670974 SCV000795905 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001039305 SCV001202830 pathogenic not provided 2023-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe4993Profs*7) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs747160949, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 27460420, 28127548). ClinVar contains an entry for this variant (Variation ID: 555201). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074867 SCV001240470 pathogenic Retinal dystrophy 2019-08-07 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724127 SCV001950410 pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Phe4993ProfsTer7 variant in USH2A was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM3-P. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Genome-Nilou Lab RCV003453318 SCV004182318 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453317 SCV004182329 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453318 SCV004206339 pathogenic Retinitis pigmentosa 39 2023-02-06 criteria provided, single submitter clinical testing

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.