Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704688 | SCV000833646 | uncertain significance | Myofibrillar myopathy 3 | 2018-02-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with MYOT-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the MYOT mRNA. The next in-frame methionine is located at codon 64. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYOT cause disease. |