Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263713 | SCV001441805 | likely pathogenic | Usher syndrome type 1 | 2019-03-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001880067 | SCV002232167 | pathogenic | not provided | 2021-04-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 983710). This variant is present in population databases (rs782347270, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Gln173*) 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). |