ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.1182A>G (p.Thr394=)

gnomAD frequency: 0.00003  dbSNP: rs375253105
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290622 SCV001478733 likely benign not specified 2021-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001422838 SCV001625396 likely benign RASopathy 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001587321 SCV001814629 likely benign not provided 2021-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327627 SCV002633895 likely benign Cardiovascular phenotype 2019-08-28 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.

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