Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234814 | SCV001407474 | pathogenic | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu476*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 961163). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 26969326). This variant is not present in population databases (gnomAD no frequency). |