ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) (rs111033334)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000824794 SCV000065505 pathogenic Rare genetic deafness 2009-11-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725261 SCV000335428 pathogenic not provided 2015-10-01 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000002456 SCV001156378 pathogenic Usher syndrome, type 2A 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV000725261 SCV001218779 pathogenic not provided 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg737*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs111033334, ExAC 0.002%). This variant has been observed in families affected with Usher syndrome and autosomal recessive retinitis pigmentosa (PMID: 29490346, 17296898, 25356976). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2361). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002456 SCV000022614 pathogenic Usher syndrome, type 2A 2007-02-01 no assertion criteria provided literature only
OMIM RCV000002457 SCV000022615 pathogenic Retinitis pigmentosa 39 2007-02-01 no assertion criteria provided literature only
Counsyl RCV000002457 SCV000797194 pathogenic Retinitis pigmentosa 39 2018-01-16 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003279 SCV001161362 pathogenic Usher syndrome type 2 2019-06-23 no assertion criteria provided research

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