Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222800 | SCV001394917 | uncertain significance | RASopathy | 2022-01-19 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the MAP2K1 gene (p.*394Leuext*112). While this is not anticipated to result in nonsense mediated decay, it is expected to extend the protein by an additional 112 amino acids. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 950974). This variant has not been reported in the literature in individuals affected with MAP2K1-related conditions. This variant is not present in population databases (gnomAD no frequency). |