ClinVar Miner

Submissions for variant NM_030662.4(MAP2K2):c.320T>A (p.Ile107Asn)

dbSNP: rs1555698037
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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 RCV000608440 SCV000712343 uncertain significance not specified 2016-06-28 criteria provided, single submitter clinical testing The p.Ile107Asn variant in MAP2k2 has not been previously reported in individual s with RASopathies or in large population studies. Computational prediction tool s and conservation analysis suggest that the p.Ile107Asn variant may impact the protein, though this information is not predictive enough to determine pathogeni city. In summary, the clinical significance of the p.Ile107Asn variant is uncert ain.
Invitae RCV001059467 SCV001224091 uncertain significance RASopathy 2019-02-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with asparagine at codon 107 of the MAP2K2 protein (p.Ile107Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant has not been reported in the literature in individuals with MAP2K2-related conditions. ClinVar contains an entry for this variant (Variation ID: 40790.

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