Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000131934 | SCV000186990 | uncertain significance | Hereditary cancer-predisposing syndrome | 2014-05-09 | criteria provided, single submitter | clinical testing | The p.R601W variant (also known as c.1801C>T), located in coding exon 16 of the NF1 gene, results from a C to T substitution at nucleotide position 1801. The arginine at codon 601 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. To date, this alteration has been detected with an allele frequency of approximately 0.02% (greater than 5000 alleles tested) in our clinical cohort (includes this individual). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.R601W remains unclear.​ |
| Invitae | RCV000470005 | SCV000542241 | likely benign | Neurofibromatosis, type 1 | 2023-09-12 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000470005 | SCV002561943 | uncertain significance | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002483268 | SCV002785423 | uncertain significance | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2021-07-06 | criteria provided, single submitter | clinical testing |