ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.574C>T (p.Arg192Ter) (rs397514641)

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
Invitae RCV000033171 SCV000218634 pathogenic Neurofibromatosis, type 1 2018-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg192*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs397514641, ExAC 0.002%). This variant has been reported in the literature in individuals affected with neurofibromatosis type 1 (PMID: 10726756, 10712197, 15146469, 26056819, 16835897, 27838393, 21278392). ClinVar contains an entry for this variant (Variation ID: 40093). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000442381 SCV000521057 pathogenic not provided 2018-10-15 criteria provided, single submitter clinical testing This variant is denoted NF1 c.574C>T at the cDNA level and p.Arg192Ter (R192X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been identified in several individuals with neurofibromatosis type 1 (Fahsold 2000, Messiaen 2000, Toliat 2000, Bottillo 2009, Zhang 2015, Cali 2016) and is considered pathogenic.
Ambry Genetics RCV000492110 SCV000581337 pathogenic Hereditary cancer-predisposing syndrome 2017-09-07 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)
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626737 SCV000747440 pathogenic Multiple cafe-au-lait spots; Axillary freckling; Focal T2 hyperintense basal ganglia lesion 2017-01-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000033171 SCV000781874 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000442381 SCV000842893 pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing
OMIM RCV000033171 SCV000056953 pathogenic Neurofibromatosis, type 1 2007-08-01 no assertion criteria provided literature only
Medical Genetics,University of Parma RCV000033171 SCV000588698 likely pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided clinical testing

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.