Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988607 | SCV001138386 | pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869356 | SCV002230554 | pathogenic | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu917Glyfs*145) 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: 802707). For these reasons, this variant has been classified as Pathogenic. |