Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512985 | SCV003439853 | pathogenic | not provided | 2022-04-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys628*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 9843659). ClinVar contains an entry for this variant (Variation ID: 11858). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000012633 | SCV000032868 | pathogenic | Usher syndrome type 1B | 1998-12-01 | no assertion criteria provided | literature only |