ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.1832C>T (p.Ala611Val)

gnomAD frequency: 0.00011  dbSNP: rs375368522
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
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-Nilou Lab RCV002034299 SCV004049387 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.