ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349797 SCV001544157 uncertain significance Rasopathy 2020-03-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 203 of the MAP2K1 protein (p.Glu203Ala). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of cardio-facio-cutaneous (CFC) syndrome (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). This variant disrupts the p.Glu203Gln amino acid residue in MAP2K1. Other variant(s) that disrupt this residue have been observed in individuals with MAP2K1-related conditions (PMID: 18456719), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001261061 SCV001438463 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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