Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036036 | SCV001199380 | uncertain significance | Neuropathy, hereditary motor and sensory, type 6B | 2019-02-22 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals with SLC25A46-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the SLC25A46 mRNA. It is expected to extend the length of the SLC25A46 protein by 8 additional amino acid residues. |