Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794308 | SCV000933707 | uncertain significance | Juvenile onset Parkinson disease 19A | 2018-07-23 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with DNAJC6-related disease. 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. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces serine with glycine at codon 59 of the DNAJC6 protein (p.Ser59Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine. |