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
Labcorp Genetics (formerly Invitae), Labcorp RCV001349797 SCV001544157 likely pathogenic RASopathy 2021-03-18 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Gly203 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. 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 has been observed in individual(s) with cardio-facio-cutaneous (CFC) syndrome (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 981554). This variant is not present in population databases (ExAC no frequency). 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.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261061 SCV001438463 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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