ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr)

dbSNP: rs1597866802
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 RCV002434409 SCV001189294 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-04-20 criteria provided, single submitter clinical testing The p.A2603T variant (also known as c.7807G>A), located in coding exon 53 of the NF1 gene, results from a G to A substitution at nucleotide position 7807. This variant impacts the first base pair of coding exon 53. The alanine at codon 2603 is replaced by thymine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001873422 SCV002280096 uncertain significance Neurofibromatosis, type 1 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2603 of the NF1 protein (p.Ala2603Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 827269). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Genome-Nilou Lab RCV001873422 SCV002561151 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.