ClinVar Miner

Submissions for variant NM_001256864.2(DNAJC6):c.1039A>G (p.Ile347Val)

gnomAD frequency: 0.00012  dbSNP: rs200712827
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761660 SCV000891833 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798987 SCV000938632 uncertain significance Juvenile onset Parkinson disease 19A 2022-05-26 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 623687). This variant has not been reported in the literature in individuals affected with DNAJC6-related conditions. This variant is present in population databases (rs200712827, gnomAD 0.03%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 347 of the DNAJC6 protein (p.Ile347Val).
Genome-Nilou Lab RCV000798987 SCV004049377 uncertain significance Juvenile onset Parkinson disease 19A 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619405 SCV005111929 uncertain significance Inborn genetic diseases 2024-04-01 criteria provided, single submitter clinical testing The c.868A>G (p.I290V) alteration is located in exon 8 (coding exon 8) of the DNAJC6 gene. This alteration results from a A to G substitution at nucleotide position 868, causing the isoleucine (I) at amino acid position 290 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.