ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.83_84delinsAA (p.Gly28Glu)

dbSNP: rs730880520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158045 SCV000207980 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing The c.83_84delGCinsAA variant in the MAP2K2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes an in-frame substitution of Glycine 28 with a Glutamic acid residue, denoted p.Gly28Glu. The c.83_84delGCinsAA variant is not observed in large population cohorts (Lek et al., 2016). The c.83_84delGCinsAA variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014). We interpret c.83_84delGCinsAA as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001852681 SCV002312053 uncertain significance RASopathy 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 28 of the MAP2K2 protein (p.Gly28Glu). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with MAP2K2-related conditions. ClinVar contains an entry for this variant (Variation ID: 40766). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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