ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.823C>T (p.Leu275=)

gnomAD frequency: 0.00070  dbSNP: rs145934142
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen RASopathy Variant Curation Expert Panel RCV000520563 SCV000616570 benign RASopathy 2017-05-09 reviewed by expert panel curation The filtering allele frequency of the c.823C>T (p.Leu275=) variant in the MAP2K2 gene is 0.2% (19/6224) 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 RCV000039494 SCV000063183 likely benign not specified 2009-04-27 criteria provided, single submitter clinical testing
Invitae RCV000520563 SCV001003112 benign RASopathy 2024-01-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000039494 SCV001363493 benign not specified 2019-07-05 criteria provided, single submitter clinical testing
GeneDx RCV001705637 SCV001915374 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426540 SCV002680956 likely benign Cardiovascular phenotype 2022-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003944870 SCV004761312 likely benign MAP2K2-related disorder 2021-07-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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