Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001381432 | SCV001579815 | pathogenic | not provided | 2023-12-14 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 1 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 (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with USH1C-related conditions (PMID: 11139240). ClinVar contains an entry for this variant (Variation ID: 1069539). 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. |
| Gene |
RCV001381432 | SCV001782279 | likely pathogenic | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
| Baylor Genetics | RCV003462976 | SCV004207656 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A | 2023-06-29 | criteria provided, single submitter | clinical testing |