ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4046C>T (p.Ala1349Val)

dbSNP: rs1229215269
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
Ambry Genetics RCV002319309 SCV001183395 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-05-25 criteria provided, single submitter clinical testing The p.A1349V variant (also known as c.4046C>T), located in coding exon 30 of the NF1 gene, results from a C to T substitution at nucleotide position 4046. The alanine at codon 1349 is replaced by valine, an amino acid with similar 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.
Invitae RCV001347632 SCV001541902 uncertain significance Neurofibromatosis, type 1 2020-04-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1349 of the NF1 protein (p.Ala1349Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Genome-Nilou Lab RCV001347632 SCV002560367 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.