ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)

gnomAD frequency: 0.00222  dbSNP: rs144383241
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000200611 SCV000616547 benign RASopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.1162C>T (p.Arg388Trp) variant in the MAP2K2 gene is 0.125% for African chromosomes by the Exome Aggregation Consortium (25/2788 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). Additional case-level data available: SCV000204180.4; SCV000252871.4.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154509 SCV000204180 likely benign not specified 2015-06-26 criteria provided, single submitter clinical testing p.Arg388Trp in exon 11 of MAP2K2: This variant is not expected to have clinical significance because it has been identified in 0.9% (25/2788) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs144383241).
Invitae RCV000200611 SCV000252871 benign RASopathy 2024-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000154509 SCV000337012 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000680296 SCV000513533 benign not provided 2016-06-03 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.
Baylor Genetics RCV001334284 SCV001527084 uncertain significance Cardiofaciocutaneous syndrome 4 2018-08-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002354182 SCV002619752 benign Cardiovascular phenotype 2021-05-21 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.
Fulgent Genetics, Fulgent Genetics RCV001334284 SCV002794992 likely benign Cardiofaciocutaneous syndrome 4 2021-09-02 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV000824952 SCV000965987 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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