ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.37G>A (p.Val13Met)

gnomAD frequency: 0.00001  dbSNP: rs1060500261
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
Invitae RCV000461213 SCV000542002 uncertain significance Neurofibromatosis, type 1 2016-12-29 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 13 of the NF1 protein (p.Val13Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a NF1-related disease. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies.
Ambry Genetics RCV002365591 SCV002625418 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-06-23 criteria provided, single submitter clinical testing The p.V13M variant (also known as c.37G>A), located in coding exon 1 of the NF1 gene, results from a G to A substitution at nucleotide position 37. The valine at codon 13 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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.