Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659966 | SCV000781878 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000680812 | SCV000808258 | likely pathogenic | not provided | 2020-06-17 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24803665, 29566708, 25541118, 16944272, 27838393, 31370276) |
Genome Diagnostics Laboratory, |
RCV000659966 | SCV001479108 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000659966 | SCV002231849 | pathogenic | Neurofibromatosis, type 1 | 2023-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 223 of the NF1 protein (p.Trp223Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with neurofibromatosis type 1 (PMID: 16944272, 25541118, 29566708). ClinVar contains an entry for this variant (Variation ID: 547570). 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. |
Genome- |
RCV000659966 | SCV002561594 | likely pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Medical Genetics, |
RCV000659966 | SCV002567803 | likely pathogenic | Neurofibromatosis, type 1 | 2022-08-17 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000659966 | SCV002579698 | likely pathogenic | Neurofibromatosis, type 1 | 2021-12-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000680812 | SCV004009768 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | NF1: PS1, PM2, PM6, PP3, PP4 |