ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9391dup (p.Val3131fs)

dbSNP: rs2102796558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724845 SCV001950427 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Val3131GlyfsTer14 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. Based on this evidence we have classified this variant as Likely Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Labcorp Genetics (formerly Invitae), Labcorp RCV002539741 SCV002952313 pathogenic not provided 2022-05-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val3131Glyfs*14) 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). ClinVar contains an entry for this variant (Variation ID: 1297141). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003451859 SCV004182701 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003451859 SCV004206409 likely pathogenic Retinitis pigmentosa 39 2022-06-27 criteria provided, single submitter clinical testing

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