ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6497G>T (p.Gly2166Val)

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
Ambry Genetics RCV002361753 SCV002658703 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-09-22 criteria provided, single submitter clinical testing The p.G2145V variant (also known as c.6434G>T), located in coding exon 42 of the NF1 gene, results from a G to T substitution at nucleotide position 6434. The glycine at codon 2145 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.