ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4819del (p.Tyr1607fs)

dbSNP: rs876658492
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000497109 SCV001392425 pathogenic Neurofibromatosis, type 1 2022-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 431648). This variant is also known as c.4751delT, p.Tyr1586fs. This premature translational stop signal has been observed in individual(s) with neurofibromatosis type-1 (PMID: 26056819; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1586Ilefs*17) 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).
GeneDx RCV003227771 SCV003924805 pathogenic not provided 2022-11-09 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); De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; This variant is associated with the following publications: (PMID: 35260566, 23913538, 10712197, 26056819)
Medical Genetics, University of Parma RCV000497109 SCV000588790 pathogenic Neurofibromatosis, type 1 2017-02-02 no assertion criteria provided 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.