ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.580-2A>T

dbSNP: rs1850678559
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199565 SCV001162711 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268623 SCV001447684 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375345 SCV001572063 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate
Invitae RCV001268623 SCV003439713 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the USH1C 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 USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 27460420, 32531858). ClinVar contains an entry for this variant (Variation ID: 813103). 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.

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