Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001853405 | SCV002245665 | pathogenic | not provided | 2022-04-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asp75Thrfs*31) 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 clinical features of autosomal recessive Usher syndrome (PMID: 8900236, 15823922, 31479088). This variant is also known as 75delG(FS). ClinVar contains an entry for this variant (Variation ID: 226431). |
Gene |
RCV000222769 | SCV000268739 | not provided | Usher syndrome type 1 | no assertion provided | literature only |