ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3558del (p.Cys1186fs)

dbSNP: rs397518014
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000824788 SCV000065526 pathogenic Rare genetic deafness 2011-09-17 criteria provided, single submitter clinical testing
Counsyl RCV000041830 SCV000487464 likely pathogenic Usher syndrome type 2A 2015-12-16 criteria provided, single submitter clinical testing
Counsyl RCV000411413 SCV000487465 likely pathogenic Retinitis pigmentosa 39 2015-12-16 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073532 SCV001239079 likely pathogenic Retinal dystrophy 2019-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001213213 SCV001384834 pathogenic not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys1186Trpfs*51) 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 (rs397518014, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 20613545, 27318125). ClinVar contains an entry for this variant (Variation ID: 48504). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000041830 SCV003761493 pathogenic Usher syndrome type 2A 2023-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000411413 SCV004182330 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000041830 SCV004182331 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411413 SCV004200680 pathogenic Retinitis pigmentosa 39 2023-06-12 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001073532 SCV005068568 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007962 SCV005641286 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-05-03 criteria provided, single submitter clinical testing

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