ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu)

dbSNP: rs1555614646
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000632350 SCV000753528 uncertain significance Neurofibromatosis, type 1 2021-03-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glutamic acid at codon 1060 of the NF1 protein (p.Asp1060Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 527474). 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 not expected to disrupt NF1 protein function. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811126 SCV002050130 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing The NF1 c.3180T>G; p.Asp1060Glu variant (rs1555614646) to our knowledge, is not reported in the medical literature but is reported in a gene-specific database (see link below) and in the ClinVar database (Variation ID: 527474). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The aspartic acid at codon 1060 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.179). Due to limited information, the clinical significance of the p.Asp1060Glu variant is uncertain at this time. References: Link to NF1 database: https://databases.lovd.nl/shared/genes/NF1
Genome-Nilou Lab RCV000632350 SCV002560271 uncertain significance Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter 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.