ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) (rs772808534)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673031 SCV000798196 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV001039961 SCV001203513 pathogenic not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg34*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772808534, ExAC 0.002%). This variant has been observed in several individuals affected with Usher syndrome or retinitis pigmentosa (PMID: 10909849, 15823922, 28041643). ClinVar contains an entry for this variant (Variation ID: 438000). 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504668 SCV000598760 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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