ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1972-1G>A

gnomAD frequency: 0.00004  dbSNP: rs372927796
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672169 SCV000797246 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-01-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074724 SCV001240317 pathogenic Retinal dystrophy 2019-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001377215 SCV001574489 pathogenic not provided 2023-11-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 11 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 (rs372927796, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with inherited retinal dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 556200). 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.
GeneDx RCV001377215 SCV001812956 pathogenic not provided 2020-01-17 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003446324 SCV004172189 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446323 SCV004172191 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446324 SCV004206394 likely pathogenic Retinitis pigmentosa 39 2024-03-20 criteria provided, single submitter clinical testing

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