ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter)

dbSNP: rs1555619051
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
Invitae RCV001210468 SCV001381957 pathogenic Neurofibromatosis, type 1 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 940807). This premature translational stop signal has been observed in individual(s) with NF1-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1546*) 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543516 SCV001762135 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001210468 SCV002560080 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV001543516 SCV004169124 pathogenic not provided 2023-10-31 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21520333, 31370276)

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.