ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.155T>G (p.Met52Arg)

gnomAD frequency: 0.00037  dbSNP: rs543122580
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547886 SCV000646195 likely benign Multiple endocrine neoplasia type 4 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567439 SCV000673219 benign Hereditary cancer-predisposing syndrome 2022-10-18 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 RCV000567439 SCV002535471 likely benign Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter curation
GeneDx RCV003151786 SCV003840445 uncertain significance not provided 2023-10-23 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
PreventionGenetics, part of Exact Sciences RCV003935474 SCV004760404 likely benign CDKN1B-related disorder 2022-03-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.