ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.49A>G (p.Thr17Ala)

dbSNP: rs397517415
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Total submissions: 2
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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 RCV000039486 SCV000063174 likely benign not specified 2011-02-01 criteria provided, single submitter clinical testing Thr17Ala in exon 1 of MAP2K2: This variant is not likely to have clinical or pat hologic significance as it was identified in one reportedly unaffected individua l by our laboratory.
GeneDx RCV001564919 SCV001788161 uncertain significance not provided 2022-11-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29493581)

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