ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) (rs747160949)

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Total submissions: 4
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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
Invitae RCV001039305 SCV001202830 pathogenic not provided 2020-01-31 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. This variant is present in population databases (rs747160949, ExAC 0.001%). This variant has been reported in individuals affected with Usher syndrome (PMID: 27460420, 28127548). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10909849, 20507924, 24944099, 25649381). 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 Institute Rare Disease Group, Broad Institute 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.

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