Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385689 | SCV001585638 | pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 236485). This premature translational stop signal has been observed in individual(s) with clinical features of Usher syndrome (PMID: 27208204). This sequence change creates a premature translational stop signal (p.Lys1210*) 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). |
Centre for Genomic Medicine, |
RCV000225423 | SCV000282592 | likely pathogenic | Retinal dystrophy | no assertion criteria provided | clinical testing |