Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000525652 | SCV000628435 | pathogenic | Neurofibromatosis, type 1 | 2024-08-21 | 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 784 of the NF1 protein (p.Trp784Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with neurofibromatosis type I (PMID: 11857752, 12807981, 15146469, 24789688). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68318). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt NF1 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Genome Diagnostics Laboratory, |
RCV000525652 | SCV001479021 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000059170 | SCV002007749 | likely pathogenic | not provided | 2021-07-21 | 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: 25486365, 31776437, 27535533, 15146469, 12807981, 24789688, 18484666, 18546366, 11857752, 24803665) |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000059170 | SCV002051643 | pathogenic | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | PS4, PP2, PP3, PM1, PM2, PM5, PM6 |
Genome- |
RCV000525652 | SCV002561757 | likely pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
NHS Central & South Genomic Laboratory Hub | RCV000525652 | SCV005393919 | pathogenic | Neurofibromatosis, type 1 | 2024-11-11 | criteria provided, single submitter | clinical testing | |
Uni |
RCV000059170 | SCV000090699 | not provided | not provided | no assertion provided | not provided |