Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246641 | SCV001420013 | uncertain significance | Neurofibromatosis, type 1 | 2019-11-04 | criteria provided, single submitter | clinical testing | This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 1110 of the NF1 protein (p.Phe1110Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. |