ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.496+1G>T

dbSNP: rs138138689
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666962 SCV000791340 pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090231 SCV001245636 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001090231 SCV001400823 pathogenic not provided 2023-12-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 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 present in population databases (rs138138689, gnomAD 0.005%). Disruption of this splice site has been observed in individuals with Usher syndrome (PMID: 17407589, 25468891). ClinVar contains an entry for this variant (Variation ID: 551814). 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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001090231 SCV001447683 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001090231 SCV002020830 pathogenic not provided 2019-07-03 criteria provided, single submitter clinical testing
GeneDx RCV001090231 SCV002540365 pathogenic not provided 2022-06-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 25468891, 24498627, 25525159, 17407589, 31589614)
Fulgent Genetics, Fulgent Genetics RCV002499156 SCV002814821 pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 2021-07-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465458 SCV004207640 pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2023-09-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829837 SCV002077657 pathogenic Usher syndrome type 1C 2020-07-09 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.