ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6897del (p.Lys2300fs)

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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002053869 SCV002320667 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-03-30 criteria provided, single submitter clinical testing NF1 NM_000267.3 exon 45 p.Lys2279Asnfs*19 (c.6834del): This variant has been reported in the literature in one individual who met NIH diagnostic criteria for neurofibromatosis type I (Griffiths 2007 PMID:16944272). This variant is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop codon 19 amino acids downstream from this location which results in an absent or abnormal protein product. Loss-of-function variants are a known mechanism of disease for this gene (Sabbagh 2013 PMID:23913538). In summary, this variant is classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002053869 SCV002811061 pathogenic Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV005382373 SCV006034534 pathogenic Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-12-18 criteria provided, single submitter clinical testing The c.6834delC pathogenic mutation, located in coding exon 45 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 6834, causing a translational frameshift with a predicted alternate stop codon (p.K2279Nfs*19). This variant was reported in individual(s) with features consistent with Neurofibromatosis type 1 (NF1); in at least one individual (Ambry internal data). 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.

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.