Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001958289 | SCV002219905 | uncertain significance | Juvenile onset Parkinson disease 19A | 2021-11-08 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is present in population databases (rs754115488, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 40 of the DNAJC6 protein (p.Arg40Ile). |