ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2684T>G (p.Met895Arg)

dbSNP: rs1555614301
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 RCV000632506 SCV000753691 uncertain significance Neurofibromatosis, type 1 2022-04-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 527591). This missense change has been observed in individual(s) with neurofibromatosis type 1 (PMID: 25074460). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 895 of the NF1 protein (p.Met895Arg).
GeneDx RCV004721503 SCV005327259 likely pathogenic not provided 2024-03-20 criteria provided, single submitter clinical testing Exonic splice site variant reported to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease (PMID: 29290338); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25074460, 29290338, 35982159, 35982160)

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.