ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) (rs137854552)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492774 SCV000581242 pathogenic Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Athena Diagnostics Inc RCV000418287 SCV000842894 pathogenic not provided 2018-02-07 criteria provided, single submitter clinical testing
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000000371 SCV000693463 pathogenic Neurofibromatosis, type 1 2017-08-10 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000000371 SCV000692361 pathogenic Neurofibromatosis, type 1 2017-03-03 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762995 SCV000893440 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000418287 SCV000521066 pathogenic not provided 2018-11-28 criteria provided, single submitter clinical testing The R1947X nonsense variant in the NF1 gene has been frequently reported in association with neurofibromatosis type 1 (Cawthon et al., 1990; Klose et al., 1999; Hutter et al., 2016). The R1947X variant was not observed in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider R1947X to be pathogenic.
Invitae RCV000000371 SCV000260568 pathogenic Neurofibromatosis, type 1 2018-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1947*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as a recurrent variant observed in many individuals affected with neurofibromatosis type 1 (PMID: 2114220, 7649559, 7903661, 8069310, 8385067, 10076878). This variant is also known as 1087C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 343). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000371 SCV000020515 pathogenic Neurofibromatosis, type 1 2000-01-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.