Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705053 | SCV000834033 | uncertain significance | Peroxisome biogenesis disorder 11A (Zellweger) | 2017-12-12 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with proline at codon 160 of the PEX13 protein (p.Ala160Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PEX13-related disease. This variant is not present in population databases (ExAC no frequency). |