ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.1162C>T (p.Arg388Trp) (rs144383241)

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Total submissions: 6
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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,Partners HealthCare 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 RCV000680296 SCV000252871 benign not provided 2019-02-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824952 SCV000965987 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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