ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.972T>A (p.Cys324Ter)

dbSNP: rs1597680938
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 RCV000820261 SCV000960967 pathogenic Neurofibromatosis, type 1 2018-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has been observed in an individual affected with neurofibromatosis type I (PMID: 24789688). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys324*) in the NF1 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV002286790 SCV002577026 likely pathogenic not provided 2022-03-29 criteria provided, single submitter clinical testing Nonsense 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; Published functional studies support that this variant results in aberrant splicing (Xu 2014); Not observed at significant frequency in large population cohorts (gnomAD); Identified in a patient with clinically definite or suspected NF1 in published literature (Xu 2014); This variant is associated with the following publications: (PMID: 24789688, Zhang2018[Poster])

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.