Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554405 | SCV000638810 | uncertain significance | Myofibrillar myopathy 3 | 2016-11-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYOT-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the additional amino acid is currently unknown. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This sequence change disrupts the translational stop signal of the MYOT mRNA and it is expected to extend the length of the MYOT protein by 1 additional amino acid residues. |