ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3589del (p.Ser1197fs)

dbSNP: rs1553313810
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Total submissions: 9
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001066145 SCV001231144 pathogenic not provided 2024-05-22 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. 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 variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 552496). 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)
Genome-Nilou Lab RCV001376335 SCV004182325 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451661 SCV004182326 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001376335 SCV004208214 pathogenic Retinitis pigmentosa 39 2023-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000667768 SCV005641276 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-04-17 criteria provided, single submitter clinical testing

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