Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579375 | SCV000680724 | pathogenic | not provided | 2022-12-16 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation and nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23913538, 10712197, 29617658, 31370276, 25074460) |
Center for Human Genetics, |
RCV000660099 | SCV000782080 | likely pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000660099 | SCV001479140 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660099 | SCV001591758 | pathogenic | Neurofibromatosis, type 1 | 2020-01-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 25074460, 31370276). ClinVar contains an entry for this variant (Variation ID: 488819). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp2204*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |
Revvity Omics, |
RCV000579375 | SCV002018320 | pathogenic | not provided | 2019-10-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000660099 | SCV002560198 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377200 | SCV002667241 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2017-06-26 | criteria provided, single submitter | clinical testing | The p.W2204* pathogenic mutation (also known as c.6611G>A), located in coding exon 43 of the NF1 gene, results from a G to A substitution at nucleotide position 6611. This changes the amino acid from a tryptophan to a stop codon within coding exon 43. This alteration was reported in 1/279 patients undergoing clinical testing for NF1 (Pasmant E et al. Eur. J. Hum. Genet., 2015 May;23:596-601). In addition to the information presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |