ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)

gnomAD frequency: 0.00003  dbSNP: rs754768875
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578898 SCV000680588 pathogenic not provided 2023-03-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 28805479, 18273898, 27957503, 28512305, 32675063, 33576794, 33090715, 34781295, 33691693, 33124170, 30358468, 26927203, 30718709, 22334370, 24944099)
Labcorp Genetics (formerly Invitae), Labcorp RCV000578898 SCV000937987 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1653*) 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 (rs754768875, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Usher syndrome and retinitis pigmentosa (PMID: 18273898, 22334370, 27957503, 28512305). ClinVar contains an entry for this variant (Variation ID: 488733). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000670513 SCV001135553 pathogenic Usher syndrome type 2A 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000670513 SCV004181865 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465286 SCV004207722 pathogenic Retinitis pigmentosa 39 2023-12-11 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889925 SCV004708002 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000578898 SCV005196887 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing
Counsyl RCV000670513 SCV000795372 pathogenic Usher syndrome type 2A 2017-11-07 no assertion criteria provided clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787731 SCV000926734 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787898 SCV000926916 likely pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research
Natera, Inc. RCV000670513 SCV001462263 pathogenic Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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