ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2921A>G (p.Asn974Ser) (rs557875547)

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
Ambry Genetics RCV000165243 SCV000215958 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing Rarity in general population databases (dbSNP, ESP, 1000 Genomes);Insufficient or Conflicting Evidence;in silico models in agreement (benign)
GeneDx RCV000681074 SCV000808528 uncertain significance not provided 2017-12-22 criteria provided, single submitter clinical testing This variant is denoted NF1 c.2921A>G at the cDNA level, p.Asn974Ser (N974S) at the protein level, and results in the change of an Asparagine to a Serine (AAT>AGT). This variant was observed in the germline of an individual with mesothelioma (Yoshikawa 2015), and has also been reported as a somatic variant in a liposarcoma and pheochromocytoma (Asano 2017, Pillai 2017). NF1 Asn974Ser was observed at an allele frequency of 0.1% (37/30,782) in individuals of South Asian ancestry in large population cohorts (Lek 2016). NF1 Asn974Ser is located within the GTPase activating protein domain (Xu 1990, Luo 2014). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether NF1 Asn974Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV001086794 SCV001006953 benign Neurofibromatosis, type 1 2019-12-31 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.