ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter)

dbSNP: rs1597832002
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
Ambry Genetics RCV002319417 SCV001185851 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-03-28 criteria provided, single submitter clinical testing The p.C1771* pathogenic mutation (also known as c.5313C>A), located in coding exon 37 of the NF1 gene, results from a C to A substitution at nucleotide position 5313. This changes the amino acid from a cysteine to a stop codon within coding exon 37. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271610 SCV002555665 likely pathogenic Neurofibromatosis, type 1 2022-06-06 criteria provided, single submitter clinical testing Variant summary: NF1 c.5313C>A (p.Cys1771X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251404 control chromosomes. To our knowledge, no occurrence of c.5313C>A in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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.