ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4252_4254del (p.Ile1418del)

dbSNP: rs1597744672
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319328 SCV001183693 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-03-27 criteria provided, single submitter clinical testing The c.4189_4191delATT variant (also known as p.I1397del) is located in coding exon 31 of the NF1 gene. This variant results from an in-frame ATT deletion at nucleotide positions 4189 to 4191. This results in the in-frame deletion of an well conserved isoleucine at codon 1397. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.