Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000803521 | SCV000943399 | uncertain significance | Hereditary motor and sensory neuropathy, Okinawa type; Hereditary spastic paraplegia 57 | 2018-08-18 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 leucine with histidine at codon 97 of the TFG protein (p.Leu97His). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and histidine. 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. |
| Ambry Genetics | RCV002440694 | SCV002750956 | uncertain significance | Inborn genetic diseases | 2019-09-24 | criteria provided, single submitter | clinical testing | The p.L97H variant (also known as c.290T>A), located in coding exon 3 of the TFG gene, results from a T to A substitution at nucleotide position 290. The leucine at codon 97 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |