ClinVar Miner

Submissions for variant NM_000319.4(PEX5):c.1554T>G (p.Asn518Lys) (rs61752138)

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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000723322 SCV000854715 pathogenic Peroxisome biogenesis disorder 2A (Zellweger) 2018-06-26 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000009714 SCV000854716 pathogenic Neonatal adrenoleucodystrophy 2018-06-26 no assertion criteria provided clinical testing
GeneDx RCV000427819 SCV000516541 pathogenic not provided 2018-08-02 criteria provided, single submitter clinical testing The N526K variant in the PEX5 gene has been reported previously (reported as N489K due toalternative nomenclature) in a patient with neonatal adrenoleukodystrophy who was apparentlyhomozygous for the N526K substitution (Dodt et al., 1995). The N526K variant was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. The N526K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. The N256K variant was shown to result in loss of PEX5 protein function (Dodt et al., 1995; Shimozawa et al., 1999). We interpret N256K as a pathogenic variant.
OMIM RCV000009714 SCV000029932 pathogenic Neonatal adrenoleucodystrophy 1995-02-01 no assertion criteria provided literature only

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.