Submissions for variant NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=)

gnomAD frequency: 0.00009  dbSNP: rs192389729

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen RASopathy Variant Curation Expert Panel	RCV000233235	SCV000616565	benign	RASopathy	2017-05-09	reviewed by expert panel	curation	The filtering allele frequency of the c.1020C>T (p.Pro340=) variant in the MAP2K2 gene is 0.262% (29/7910) of South Asian 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	RCV000039469	SCV000063153	benign	not specified	2011-02-18	criteria provided, single submitter	clinical testing	This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction.
Invitae	RCV000233235	SCV000290939	benign	RASopathy	2024-01-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813364	SCV002060567	benign	Noonan syndrome and Noonan-related syndrome	2021-04-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381315	SCV002670421	likely benign	Cardiovascular phenotype	2022-04-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV003415776	SCV004141445	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	MAP2K2: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003944927	SCV004760172	benign	MAP2K2-related condition	2020-04-27	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).