ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) (rs17851657)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000149845 SCV000616581 benign Rasopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.453C>T (p.Asp151=) variant in the MAP2K2 gene is 27.128% (10569/38338) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039484 SCV000063171 benign not specified 2008-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000039484 SCV000170179 benign not specified 2012-01-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000039484 SCV000314689 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000149845 SCV001000346 benign Rasopathy 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001539 SCV001158867 benign Cardiofaciocutaneous syndrome 4 2018-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000149845 SCV000196690 benign Rasopathy no assertion criteria provided clinical testing Variant classified using ACMG guidelines
GenomeConnect, ClinGen RCV000509111 SCV000607342 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.