ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) (rs1129187)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078574 SCV000110430 benign not specified 2016-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000586703 SCV000968192 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000407233 SCV000463340 benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586703 SCV000696488 benign not provided 2016-10-10 criteria provided, single submitter clinical testing Variant summary: The PEX6 c.2816C>A (p.Pro939Gln) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 46985/120122 control chromosomes (9823 homozygotes) at a frequency of 0.391144, which is approximately 202 times the estimated maximal expected allele frequency of a pathogenic PEX6 variant (0.0019365), evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000586703 SCV000801826 benign not provided 2015-10-21 no assertion criteria provided clinical testing
PreventionGenetics RCV000078574 SCV000303468 benign not specified 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.