ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)

dbSNP: rs1555533305
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660068 SCV000782037 uncertain significance Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319077 SCV001185017 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-05-31 criteria provided, single submitter clinical testing The p.L1624R variant (also known as c.4871T>G), located in coding exon 36 of the NF1 gene, results from a T to G substitution at nucleotide position 4871. The leucine at codon 1624 is replaced by arginine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000660068 SCV001205377 pathogenic Neurofibromatosis, type 1 2023-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt NF1 protein function. ClinVar contains an entry for this variant (Variation ID: 547653). This missense change has been observed in individual(s) with neurofibromatosis type 1 (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1624 of the NF1 protein (p.Leu1624Arg).
CeGaT Center for Human Genetics Tuebingen RCV001532342 SCV001747862 likely pathogenic not provided 2021-02-01 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.