Submissions for variant NM_002755.4(MAP2K1):c.927A>T (p.Ala309=)

gnomAD frequency: 0.00357  dbSNP: rs146869577

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen RASopathy Variant Curation Expert Panel	RCV000467423	SCV000616556	benign	RASopathy	2017-05-09	reviewed by expert panel	curation	The filtering allele frequency of the c.927A>T (p.Ala309=) variant in the MAP2K1 gene is 1.307% (156/10406) of African 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	RCV000154534	SCV000204206	benign	not specified	2013-05-03	criteria provided, single submitter	clinical testing	Ala309Ala in Exon 08 of MEK1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.0% (39/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs146869577).
PreventionGenetics, part of Exact Sciences	RCV000154534	SCV000309178	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467423	SCV000556850	benign	RASopathy	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001705633	SCV001842355	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813308	SCV002060565	benign	Noonan syndrome and Noonan-related syndrome	2019-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002371812	SCV002686519	benign	Cardiovascular phenotype	2020-11-20	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705633	SCV004563909	benign	not provided	2024-10-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705633	SCV005293002	benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV001705633	SCV005891759	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	MAP2K1: BP4, BP7, BS1