Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000793656 | SCV000933020 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2018-08-02 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with glycine at codon 445 of the PLOD1 protein (p.Val445Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PLOD1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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. |
Laboratory of Diagnostic Genome Analysis, |
RCV001573412 | SCV001799264 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001573412 | SCV001930712 | uncertain significance | not provided | no assertion criteria provided | clinical testing |