ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)

dbSNP: rs199474774
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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290895 SCV001479162 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558295 SCV005048559 likely pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-07-13 criteria provided, single submitter clinical testing The p.L578R variant (also known as c.1733T>G), located in coding exon 16 of the NF1 gene, results from a T to G substitution at nucleotide position 1733. The leucine at codon 578 is replaced by arginine, an amino acid with dissimilar properties. This alteration has been reported in multiple individuals meeting NIH criteria for neurofibromatosis type I (NF1) (Ambry internal data; Kluwe L et al. J Med Genet, 2003 May;40:368-71; Ko JM et al. Pediatr Neurol, 2013 Jun;48:447-53; Wang X et al. Genes Chromosomes Cancer, 2018 Jan;57:19-27). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
UniProtKB/Swiss-Prot RCV000059156 SCV000090685 not provided not provided no assertion provided not provided

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.