ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1023_1024insGACA (p.Ile342fs)

dbSNP: rs2143874147
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 RCV001970214 SCV002239746 pathogenic Neurofibromatosis, type 1 2020-11-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NF1-related conditions. This sequence change creates a premature translational stop signal (p.Ile342Aspfs*12) 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 (ExAC no frequency).
Ambry Genetics RCV002370610 SCV002685169 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-01-22 criteria provided, single submitter clinical testing The c.1023_1024insGACA pathogenic mutation, located in coding exon 9 of the NF1 gene, results from an insertion of 4 nucleotides at position 1023, causing a translational frameshift with a predicted alternate stop codon (p.I342Dfs*12). 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.

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.