Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044396 | SCV001208192 | uncertain significance | Neurofibromatosis, type 1 | 2019-12-18 | 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"). 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 been observed in individual(s) with neurofibromatosis (PMID: 16835897). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 1150 of the NF1 protein (p.Ser1150Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. |
Gene |
RCV001570393 | SCV001794683 | likely pathogenic | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | Reported in a patient with neurofibromatosis type 1 in the literature (Lee et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22155606, 16835897, 24803665) |