Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001263994 | SCV001442092 | likely pathogenic | Usher syndrome type 1 | 2019-04-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002537664 | SCV003234171 | pathogenic | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2036*) 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: 983989). For these reasons, this variant has been classified as Pathogenic. |