ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4027A>C (p.Thr1343Pro)

dbSNP: rs2151451431
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002037124 SCV002111138 likely pathogenic Neurofibromatosis, type 1 2021-10-25 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt NF1 protein function. This missense change has been observed in individual(s) with neurofibromatosis type 1 (PMID: 25074460). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with proline at codon 1343 of the NF1 protein (p.Thr1343Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline.

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.