Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000786988 | SCV001523052 | likely pathogenic | Neurofibromatosis, type 1 | 2020-05-05 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Labcorp Genetics |
RCV000786988 | SCV003441738 | pathogenic | Neurofibromatosis, type 1 | 2022-05-25 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 777 of the NF1 protein (p.Trp777Gly). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Trp777 amino acid residue in NF1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10712197, 15146469, 17726231). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 635519). This missense change has been observed in individual(s) with neurofibromatosis type I (PMID: 30308447; Invitae). This variant is not present in population databases (gnomAD no frequency). |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000786988 | SCV000925894 | likely pathogenic | Neurofibromatosis, type 1 | 2018-11-23 | no assertion criteria provided | clinical testing |