ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2227-1G>T

gnomAD frequency: 0.00001  dbSNP: rs778110397
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666443 SCV000790736 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868213 SCV002316545 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individual(s) with Usher syndrome (PMID: 21487335). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as c.2227-1G>T. ClinVar contains an entry for this variant (Variation ID: 551392). 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.
Fulgent Genetics, Fulgent Genetics RCV000666443 SCV002776357 likely pathogenic Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2024-05-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459578 SCV004207681 pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2024-02-09 criteria provided, single submitter 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.