Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001882614 | SCV002190845 | pathogenic | not provided | 2022-06-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1658*) 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). |
Myriad Genetics, |
RCV002307752 | SCV002603006 | likely pathogenic | Usher syndrome type 1 | 2021-12-03 | criteria provided, single submitter | clinical testing | NM_000260.3(MYO7A):c.4972C>T(Q1658*) is expected to be pathogenic in the context of MYO7A-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MYO7A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |
Wang |
RCV001822906 | SCV001762435 | pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2021-07-01 | no assertion criteria provided | clinical testing |