Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263805 | SCV001441898 | likely pathogenic | Usher syndrome type 1 | 2020-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002541613 | SCV003003050 | pathogenic | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Trp719*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). ClinVar contains an entry for this variant (Variation ID: 983802). For these reasons, this variant has been classified as Pathogenic. |