ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter)

gnomAD frequency: 0.00003  dbSNP: rs398124619
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000760348 SCV000331481 pathogenic not provided 2013-08-27 criteria provided, single submitter clinical testing
Counsyl RCV000675016 SCV000800443 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000760348 SCV000890208 pathogenic not provided 2021-10-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense-mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 32176120, 31266775, 19881469, 23924366)
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002688 SCV001156367 pathogenic Usher syndrome type 2A 2019-02-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075205 SCV001240819 pathogenic Retinal dystrophy 2018-11-15 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376458 SCV001573606 pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.6862G>T 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, PM3, PP3. Based on this evidence we have classified this variant as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000760348 SCV001583717 pathogenic not provided 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2288*) 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 present in population databases (rs398124619, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with Usher syndrome type II (PMID: 19881469, 22135276, 23924366). ClinVar contains an entry for this variant (Variation ID: 96666). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001376458 SCV004181606 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001002688 SCV004181607 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001376458 SCV004208306 pathogenic Retinitis pigmentosa 39 2023-12-14 criteria provided, single submitter clinical testing

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