Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004379 | SCV001163346 | likely pathogenic | Usher syndrome type 1 | criteria provided, single submitter | clinical testing | ||
Myriad Genetics, |
RCV001004379 | SCV001441811 | likely pathogenic | Usher syndrome type 1 | 2019-12-11 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003132140 | SCV003816196 | likely pathogenic | not provided | 2022-02-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003132140 | SCV004317087 | pathogenic | not provided | 2023-08-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln390*) 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 variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 813428). For these reasons, this variant has been classified as Pathogenic. |