Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000547012 | SCV000650806 | uncertain significance | Anterior segment dysgenesis 7 | 2017-06-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 1448 of the PXDN protein (p.Val1448Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs577701184, ExAC 0.06%). This variant has not been reported in the literature in individuals with a PXDN-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on PXDN function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |