Total submissions: 9
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 | |
Ce |
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, |
RCV001090231 | SCV001447683 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001090231 | SCV002020830 | pathogenic | not provided | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Gene |
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, |
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, |
RCV001829837 | SCV002077657 | pathogenic | Usher syndrome type 1C | 2020-07-09 | no assertion criteria provided | clinical testing |