Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796439 | SCV000935952 | uncertain significance | Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with isoleucine at codon 191 of the VPS45 protein (p.Val191Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs200783288, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with VPS45-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, |
RCV000796439 | SCV002085782 | uncertain significance | Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 2021-03-27 | no assertion criteria provided | clinical testing |