ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) (rs111033418)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041678 SCV000065374 likely pathogenic Rare genetic deafness 2009-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000522247 SCV000617258 pathogenic not provided 2017-11-07 criteria provided, single submitter clinical testing The Q3587X nonsense variant has been reported previously in association with Usher syndrome (Garcia-Garcia et al., 2011; Neuhaus et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q3587X as a pathogenic variant.
Counsyl RCV000664676 SCV000788677 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-10-06 criteria provided, single submitter clinical testing
Invitae RCV000522247 SCV001212161 pathogenic not provided 2019-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3587*) 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 been observed in several individuals affected with Usher syndrome (PMID: 22004887, 28944237). ClinVar contains an entry for this variant (Variation ID: 48357). 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.

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