Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001947622 | SCV002175983 | uncertain significance | Juvenile onset Parkinson disease 19A | 2022-06-18 | 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 not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 664 of the DNAJC6 protein (p.Ser664Gly). |
Ambry Genetics | RCV004042524 | SCV004860140 | uncertain significance | Inborn genetic diseases | 2023-11-27 | criteria provided, single submitter | clinical testing | The c.1819A>G (p.S607G) alteration is located in exon 13 (coding exon 13) of the DNAJC6 gene. This alteration results from a A to G substitution at nucleotide position 1819, causing the serine (S) at amino acid position 607 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |