Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073795 | SCV001239357 | likely pathogenic | Retinal dystrophy | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001237148 | SCV001409899 | pathogenic | not provided | 2020-11-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH1C are known to be pathogenic (PMID: 10973247, 17407589, 20301442, 21203349). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with USH1C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val164Glufs*13) in the USH1C gene. It is expected to result in an absent or disrupted protein product. |