Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |