ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1637G>T (p.Gly546Val)

gnomAD frequency: 0.00024  dbSNP: rs145717795
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
GeneDx RCV000214131 SCV000279420 uncertain significance not provided 2024-10-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28569743)
Labcorp Genetics (formerly Invitae), Labcorp RCV001080517 SCV000288670 likely benign Oligodontia-cancer predisposition syndrome 2024-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012397 SCV001172838 benign Hereditary cancer-predisposing syndrome 2023-08-07 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.
Sema4, Sema4 RCV001012397 SCV002537097 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-08 criteria provided, single submitter curation

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.