Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001067171 | SCV001232214 | uncertain significance | Neurofibromatosis, type 2 | 2019-01-09 | 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 167 of the NF2 protein (p.Glu167Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. |
| Ambry Genetics | RCV002339334 | SCV002642322 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-10-23 | criteria provided, single submitter | clinical testing | The p.E167Q variant (also known as c.499G>C), located in coding exon 5 of the NF2 gene, results from a G to C substitution at nucleotide position 499. The glutamic acid at codon 167 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |