ClinVar Miner

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

dbSNP: rs111033418
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000522247 SCV001212161 pathogenic not provided 2024-08-13 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. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 22004887, 28944237). ClinVar contains an entry for this variant (Variation ID: 48357). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000522247 SCV001447855 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000522247 SCV001746896 pathogenic not provided 2021-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450740 SCV004182177 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450739 SCV004182178 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003450740 SCV004208361 pathogenic Retinitis pigmentosa 39 2023-08-01 criteria provided, single submitter clinical testing

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