ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3589del (p.Ser1197fs) (rs1553313810)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667768 SCV000792272 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-13 criteria provided, single submitter clinical testing
Invitae RCV001066145 SCV001231144 pathogenic not provided 2020-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1197Profs*40) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 552496). 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.
Blueprint Genetics RCV001074715 SCV001240308 likely pathogenic Retinal dystrophy 2019-04-16 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376335 SCV001573446 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.3589del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. 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.
GeneDx RCV001066145 SCV001770339 pathogenic not provided 2019-05-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016) This variant is associated with the following publications: (PMID: 16963483)

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