Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234909 | SCV001407570 | uncertain significance | ALG11-congenital disorder of glycosylation | 2019-11-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with ALG11-related conditions. This variant is present in population databases (rs757069433, ExAC 0.1%). This sequence change replaces alanine with valine at codon 450 of the ALG11 protein (p.Ala450Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. |