Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001353305 | SCV001578683 | pathogenic | Neurofibromatosis, type 1 | 2020-09-05 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with leucine at codon 1863 of the NF1 protein (p.Phe1863Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 27838393, 30308447, 22190595, Invitae). In at least one individual the variant was observed to be de novo. It is also known as p.Phe1884Leu in the literature. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003469591 | SCV004190794 | likely pathogenic | Juvenile myelomonocytic leukemia | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV001353305 | SCV001548435 | likely pathogenic | Neurofibromatosis, type 1 | 2019-01-01 | no assertion criteria provided | clinical testing |