Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263712 | SCV001441804 | likely pathogenic | Usher syndrome type 1 | 2019-10-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001880066 | SCV002127528 | pathogenic | not provided | 2021-08-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln37*) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 983709). For these reasons, this variant has been classified as Pathogenic. |