Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048211 | SCV001212203 | uncertain significance | Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with phenylalanine at codon 330 of the MPL protein (p.Ile330Phe). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MPL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. |
Natera, |
RCV001272214 | SCV001453981 | uncertain significance | Congenital amegakaryocytic thrombocytopenia | 2020-09-16 | no assertion criteria provided | clinical testing |