Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000036236 | SCV000059888 | pathogenic | Rare genetic deafness | 2011-06-21 | criteria provided, single submitter | clinical testing | The Tyr2166X variant in MYO7A has not been reported in the literature nor previo usly identified by our laboratory. The Tyr2166X variant leads to a premature sto p codon at position 2166, which is predicted to lead to a truncated or absent pr otein. In summary, this variant meets our criteria to be classified as pathogeni c. |
| Labcorp Genetics |
RCV003718110 | SCV004504908 | pathogenic | not provided | 2023-03-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 43330). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Tyr2166*) 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). |