Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002034299 | SCV002308119 | uncertain significance | Juvenile onset Parkinson disease 19A | 2021-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 611 of the DNAJC6 protein (p.Ala611Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs375368522, ExAC 0.04%). 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. |
Ambry Genetics | RCV002549014 | SCV003724390 | uncertain significance | Inborn genetic diseases | 2022-01-10 | criteria provided, single submitter | clinical testing | The c.1661C>T (p.A554V) alteration is located in exon 12 (coding exon 12) of the DNAJC6 gene. This alteration results from a C to T substitution at nucleotide position 1661, causing the alanine (A) at amino acid position 554 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV002034299 | SCV004049387 | uncertain significance | Juvenile onset Parkinson disease 19A | 2023-04-11 | criteria provided, single submitter | clinical testing |