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

gnomAD frequency: 0.14085  dbSNP: rs17851657

Total submissions: 13

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, Mass General Brigham 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, part of Exact Sciences	RCV000039484	SCV000314689	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000149845	SCV001000346	benign	RASopathy	2025-02-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001539	SCV001158867	benign	Cardiofaciocutaneous syndrome 4	2024-11-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001001539	SCV002014111	benign	Cardiofaciocutaneous syndrome 4	2021-09-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326747	SCV002634163	benign	Cardiovascular phenotype	2019-01-21	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000509111	SCV005309542	benign	not provided		criteria provided, single submitter	not provided
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.
Clinical Genetics, Academic Medical Center	RCV000039484	SCV001919121	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039484	SCV001963466	benign	not specified		no assertion criteria provided	clinical testing