ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1555del (p.Gln519fs)

dbSNP: rs2066874267
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 RCV001061848 SCV001226607 pathogenic Neurofibromatosis, type 1 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln519Lysfs*7) 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 premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 26740943). ClinVar contains an entry for this variant (Variation ID: 856397). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467814 SCV004190802 pathogenic Juvenile myelomonocytic leukemia 2022-07-15 criteria provided, single submitter 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.