ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4998dup (p.Pro1667fs)

dbSNP: rs1135402867
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 RCV002341171 SCV002640903 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-07-01 criteria provided, single submitter clinical testing The c.4935dupT pathogenic mutation, located in coding exon 36 of the NF1 gene, results from a duplication of T at nucleotide position 4935, causing a translational frameshift with a predicted alternate stop codon (p.P1646Sfs*15). This alteration was identified once in a cohort of patients affected with Neurofibromatosis Type 1 (Bonatti F et al. Int J Mol Sci, 2017 Sep;18:). 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.
Medical Genetics, University of Parma RCV000497219 SCV000588794 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.