ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9258+1G>A

gnomAD frequency: 0.00001  dbSNP: rs748810737
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672669 SCV000797799 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-02-13 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074509 SCV001240096 likely pathogenic Retinal dystrophy 2017-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091127 SCV001246992 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001091127 SCV001407857 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 46 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs748810737, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with clinical features of USH2A-related conditions (PMID: 27460420, 28944237, 30902645, 31047384). ClinVar contains an entry for this variant (Variation ID: 265980). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University Hospital Muenster RCV002059062 SCV002496128 pathogenic Retinitis pigmentosa 39 2022-02-17 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP3,PP5
Fulgent Genetics, Fulgent Genetics RCV000672669 SCV002809776 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2021-08-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002059062 SCV004172049 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000256404 SCV004172050 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV002059062 SCV004208157 pathogenic Retinitis pigmentosa 39 2023-10-18 criteria provided, single submitter clinical testing
GeneDx RCV001091127 SCV005078259 pathogenic not provided 2023-05-10 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28944237, 31047384, 32531858, 34948090, 27460420, 34203967)
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000256404 SCV000323138 likely pathogenic Usher syndrome type 2A no assertion criteria provided clinical testing
Natera, Inc. RCV000256404 SCV002088411 pathogenic Usher syndrome type 2A 2020-08-12 no assertion criteria provided clinical testing

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