Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706226 | SCV000835265 | uncertain significance | Neuronal ceroid lipofuscinosis | 2019-09-14 | criteria provided, single submitter | clinical testing | 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNAJC5-related disease. This variant is present in population databases (rs770758533, ExAC 0.008%). This sequence change replaces proline with leucine at codon 170 of the DNAJC5 protein (p.Pro170Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. |
Gene |
RCV001766562 | SCV002000789 | uncertain significance | not provided | 2020-02-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |