Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166554 | SCV000217356 | pathogenic | Hereditary cancer-predisposing syndrome | 2014-11-11 | criteria provided, single submitter | clinical testing | The p.E19* pathogenic mutation (also known as c.55G>T) located in coding exon 1 of the NF1 gene, results from a G to T substitution at nucleotide position 55. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This mutation has been detected in one individual with a clinical diagnosis of neurofibromatosis type 1 (Fahsold R, Am. J. Hum. Genet. 2000 Mar;66(3):790-818). Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Invitae | RCV000554192 | SCV000628669 | pathogenic | Neurofibromatosis, type 1 | 2023-11-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu19*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 186896). For these reasons, this variant has been classified as Pathogenic. |
Center for Human Genetics, |
RCV000554192 | SCV000781859 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001799629 | SCV002044149 | pathogenic | not provided | 2021-12-23 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or 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 (Lek 2016); This variant is associated with the following publications: (PMID: 10712197, 31768065, 34630515, 26969325) |
Genome- |
RCV000554192 | SCV002561539 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000554192 | SCV002578017 | pathogenic | Neurofibromatosis, type 1 | 2022-08-31 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2,PP3,PP5 |
Molecular Genetics Lab, |
RCV003883138 | SCV004697686 | pathogenic | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | criteria provided, single submitter | clinical testing |