Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001229343 | SCV001401785 | uncertain significance | DPM3-congenital disorder of glycosylation | 2020-01-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with DPM3-related conditions. This variant is present in population databases (rs776662775, ExAC 0.01%). This sequence change replaces alanine with threonine at codon 70 of the DPM3 protein (p.Ala70Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. |