ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.639C>T (p.Phe213=)

gnomAD frequency: 0.00001  dbSNP: rs727504818
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Total submissions: 4
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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 RCV000156156 SCV000205871 likely benign not specified 2013-10-09 criteria provided, single submitter clinical testing Phe213Phe in exon 6 of MAP2K2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence.
GeneDx RCV000680624 SCV000808066 likely benign not provided 2018-05-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000156156 SCV002041778 likely benign not specified 2021-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003114306 SCV003789689 likely benign RASopathy 2023-11-27 criteria provided, single submitter clinical testing

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