ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.384G>A (p.Pro128=)

gnomAD frequency: 0.00001  dbSNP: rs727503156
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151010 SCV000198720 likely benign not specified 2013-04-15 criteria provided, single submitter clinical testing Pro128Pro in exon 3 of MAP2K2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Labcorp Genetics (formerly Invitae), Labcorp RCV001476321 SCV001680529 likely benign RASopathy 2023-03-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000151010 SCV001748757 likely benign not specified 2021-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992021 SCV005616840 likely benign Cardiovascular phenotype 2024-10-20 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 RCV004745217 SCV005347622 likely benign MAP2K2-related disorder 2024-04-05 no assertion criteria provided 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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