ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter)

dbSNP: rs2066877587
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
Ambry Genetics RCV002402814 SCV002704549 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-07-27 criteria provided, single submitter clinical testing The p.E547* pathogenic mutation (also known as c.1639G>T), located in coding exon 14 of the NF1 gene, results from a G to T substitution at nucleotide position 1639. This changes the amino acid from a glutamic acid to a stop codon within coding exon 14. This variant was identified in 1 of 565 unrelated French probands with clinical diagnoses or suspicion of NF1 (Sabbagh A et al. Hum Mutat, 2013 Nov;34:1510-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001293725 SCV001482378 pathogenic Neurofibromatosis, type 1 2019-05-31 no assertion criteria provided research

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.