ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1052G>A (p.Arg351His)

gnomAD frequency: 0.00002  dbSNP: rs771675702
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000457098 SCV000553672 likely benign Neurofibromatosis, type 2 2025-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017145 SCV001178180 benign Hereditary cancer-predisposing syndrome 2021-06-16 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000457098 SCV002044876 uncertain significance Neurofibromatosis, type 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003235230 SCV003933154 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33106857, 35332608, 17134719, 16324214, 22482125)

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.