ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3456dup (p.Leu1153fs)

dbSNP: rs1430634618
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813508 SCV000953870 pathogenic Neurofibromatosis, type 1 2024-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1153Thrfs*42) 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 neurofibromatosis type 1 (PMID: 25074460, 26969325). This variant is also known as c.3456dupA. ClinVar contains an entry for this variant (Variation ID: 656975). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000813508 SCV001479113 pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001561245 SCV001783805 pathogenic not provided 2022-08-05 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25074460, 28433079, 26969325)
Genome-Nilou Lab RCV000813508 SCV002559961 pathogenic Neurofibromatosis, type 1 2022-03-15 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.