ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.485G>A (p.Arg162Gln)

gnomAD frequency: 0.00010  dbSNP: rs756297578
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
Invitae RCV001877391 SCV002146372 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 162 of the PEX10 protein (p.Arg162Gln). This variant is present in population databases (rs756297578, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1373599). 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002506936 SCV002815257 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2021-10-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134174 SCV003814842 uncertain significance not provided 2020-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247085 SCV003939976 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.485G>A (p.R162Q) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a G to A substitution at nucleotide position 485, causing the arginine (R) at amino acid position 162 to be replaced by a glutamine (Q). 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.