ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter)

dbSNP: rs1131691090
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
Ambry Genetics RCV000492244 SCV000581280 pathogenic Hereditary cancer-predisposing syndrome 2015-07-02 criteria provided, single submitter clinical testing The p.S2587* pathogenic mutation (also known as c.7760C>G,c.7697C>G andp.S2566*) located in coding exon 53 of the NF1 gene, results from a C to G substitution at nucleotide position 7760. This changes the amino acid from a serine to a stop codon within coding exon 53. This mutation was detected in a72 year old who was suspected of having NF1 (Neurofibromatosistype 1), butdid not fully meet NIHdiagnosticcriteria (Griffiths S, et al.Fam. Cancer 2007 ; 6(1):21-34). In addition to the clinical data presented in the literature, since premature stop codons 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).
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660121 SCV000782111 pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000660121 SCV002560588 pathogenic Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000660121 SCV004244506 pathogenic Neurofibromatosis, type 1 2023-11-21 criteria provided, single submitter clinical testing PVS1, PS4_Supporting, PM2

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.