ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.2072A>G (p.Asp691Gly)

gnomAD frequency: 0.00002  dbSNP: rs747034717
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885956 SCV002139841 uncertain significance Juvenile onset Parkinson disease 19A 2022-08-09 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 1376516). This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is present in population databases (rs747034717, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 691 of the DNAJC6 protein (p.Asp691Gly).
Ambry Genetics RCV002552200 SCV003598566 uncertain significance Inborn genetic diseases 2021-12-13 criteria provided, single submitter clinical testing The c.1901A>G (p.D634G) alteration is located in exon 14 (coding exon 14) of the DNAJC6 gene. This alteration results from a A to G substitution at nucleotide position 1901, causing the aspartic acid (D) at amino acid position 634 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV001885956 SCV004049393 uncertain significance Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.