Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001317557 | SCV001508226 | uncertain significance | Myofibrillar myopathy 3 | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg219*) in the MYOT gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYOT cause disease. This variant is present in population databases (rs781249546, gnomAD 0.004%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1018279). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. |