ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.15del (p.Arg5fs)

dbSNP: rs1057516197
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000408872 SCV001587081 pathogenic Neurofibromatosis, type 1 2020-01-15 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 not been reported in the literature in individuals with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 369956). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Arg5Serfs*19) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000408872 SCV000484937 likely pathogenic Neurofibromatosis, type 1 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.