ClinVar Miner

Submissions for variant NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) (rs1057519732)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000433235 SCV000504542 pathogenic Cutaneous melanoma 2016-03-10 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444865 SCV000504543 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426713 SCV000504544 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433927 SCV000504545 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443916 SCV000504546 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
GeneDx RCV000482718 SCV000572401 pathogenic not provided 2016-12-28 criteria provided, single submitter clinical testing The P124S variant in the MAP2K1 gene has not been reported previously as a germline pathogenic variant nor as a benign variant, to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P124S variant is a non-conservative amino acid substitution and occurs at a position that is conserved across species. Additionally, missense variants at the same codon (P124Q, P124L) and in a nearby residue (G128V) have been reported in the Human Gene Mutation Database in association with cardio-faciocutaneous syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore the P124S variant is considered to be pathogenic
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000824936 SCV000965971 uncertain significance Noonan syndrome no assertion criteria provided clinical testing

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