Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263998 | SCV001442096 | likely pathogenic | Usher syndrome type 1 | 2019-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001263998 | SCV002011829 | likely pathogenic | Usher syndrome type 1 | 2019-02-07 | criteria provided, single submitter | clinical testing | This variant creates a premature translational stop signal referred to as p.Tyr2084Ter or p.Y2084* in the MYO7A gene. It is expected to result in an absent or disrupted protein product. This mutation is considered a non-tolerated amino acid change based on “in silico” prediction algorithms (disease causing). This variant is not present in the gnomAD exomes database. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 16786533, 22593002). For these reasons, we consider this finding as a "likely pathogenic variant" related to Usher Syndrome. |