ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13811+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1177257719
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672985 SCV000798147 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-02-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073725 SCV001239284 likely pathogenic Retinal dystrophy 2017-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001231260 SCV001403774 pathogenic not provided 2024-10-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 63 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with retinitis pigmentosa or Usher syndrome (PMID: 24498627, 24938718). ClinVar contains an entry for this variant (Variation ID: 556918). 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 RCV001231260 SCV001765584 pathogenic not provided 2020-12-30 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24938718)
Genome-Nilou Lab RCV003446336 SCV004173912 likely pathogenic Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446335 SCV004173913 likely pathogenic Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003446336 SCV004208310 pathogenic Retinitis pigmentosa 39 2023-08-26 criteria provided, single submitter clinical testing

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