Submissions for variant NM_002755.4(MAP2K1):c.711G>A (p.Gly237=)

gnomAD frequency: 0.01226  dbSNP: rs17586159

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen RASopathy Variant Curation Expert Panel	RCV000205637	SCV000616553	benign	RASopathy	2017-05-09	reviewed by expert panel	curation	The filtering allele frequency of the c.711G>A (p.Gly237=) variant in the MAP2K1 gene is 1.612% (1130/66724) 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	RCV000037599	SCV000061259	benign	not specified	2007-11-30	criteria provided, single submitter	clinical testing
Invitae	RCV000205637	SCV000261488	benign	RASopathy	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000037599	SCV000309177	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705632	SCV001472998	benign	not provided	2023-10-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001705632	SCV001837871	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813307	SCV002060563	benign	Noonan syndrome and Noonan-related syndrome	2021-06-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371811	SCV002668325	benign	Cardiovascular phenotype	2019-07-30	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV000037599	SCV000207640	benign	not specified	2015-01-15	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037599	SCV002034430	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001705632	SCV002036920	likely benign	not provided		no assertion criteria provided	clinical testing