ClinVar Miner

Submissions for variant NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) (rs119468010)

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
GeneDx RCV000366635 SCV000329997 pathogenic not provided 2016-08-18 criteria provided, single submitter clinical testing The R569W pathogenic variant in the MPO gene has been reported previously in association with myeloperoxidase deficiency, when present in the homozygous state or when in trans with another pathogenic variant (Nauseef et al., 1994; Marchetti et al., 2004; Mauch et al., 2007). Although not present in the homozygous state, the NHLBI Exome Sequencing Project reports R569W was observed in 25/8600 (0.29%) alleles from individuals of European American background, indicating it may be a rare variant in this population. The R569W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. Functional studies indicate the R569W variant results in a form of apopro-MPO which does not undergo post-translational processing to enzymatically active MPO (Nauseef et al., 1996). We interpret R569W as a pathogenic variant.
GenomeConnect, ClinGen RCV000003810 SCV000607006 not provided Myeloperoxidase deficiency no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000003810 SCV000023975 pathogenic Myeloperoxidase deficiency 1996-04-19 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.