ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1642-10A>G

dbSNP: rs1597706578
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
Medical Genomics Laboratory, Department of Genetics UAB RCV001007741 SCV001167416 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, Medical University Innsbruck RCV001007741 SCV001250660 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Invitae RCV001007741 SCV001408079 likely pathogenic Neurofibromatosis, type 1 2022-10-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant results in the activation of a cryptic splice site in intron 14 (PMID: 27074763, 32126153). ClinVar contains an entry for this variant (Variation ID: 816755). This variant has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 27074763; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 14 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 3 amino acid residue(s), but is expected to preserve the integrity of the reading-frame.

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.