ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2952del (p.Gln985fs)

dbSNP: rs1555614453
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 RCV000571075 SCV000663082 pathogenic Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing The c.2952delG pathogenic mutation, located in coding exon 22 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 2952, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Baylor Genetics RCV003459297 SCV004190751 likely pathogenic Juvenile myelomonocytic leukemia 2023-04-06 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.