Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797249 | SCV000936798 | uncertain significance | Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 | 2018-08-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with TFG-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 300 of the TFG protein (p.Pro300Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C25"). 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. |