Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001863165 | SCV002238836 | pathogenic | not provided | 2021-09-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 996717). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 18181211). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1046Profs*9) 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). |
University of Washington Center for Mendelian Genomics, |
RCV001291473 | SCV001479977 | likely pathogenic | Hearing loss, autosomal recessive | no assertion criteria provided | research |