Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000003812 | SCV001140701 | uncertain significance | Myeloperoxidase deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001528671 | SCV003917950 | benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | MPO: BS1, BS2 |
Prevention |
RCV003914802 | SCV004736002 | benign | MPO-related condition | 2024-01-28 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
OMIM | RCV000003812 | SCV000023977 | pathogenic | Myeloperoxidase deficiency | 2004-05-01 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000003812 | SCV001142477 | uncertain significance | Myeloperoxidase deficiency | 2020-01-06 | no assertion criteria provided | curation | NM_000250.1:c.752T>C in the MPO gene has an allele frequency of 0.032 in European (Finnish) subpopulation in the gnomAD database. Although a number of 26 homozygous occurrences is observed in the gnomAD database, the majority patients with myeloperoxidase deficiency are asymptomatic clinically except if they are also diabetic. Therefore we determined not to adapt this as a strong benign evidence. Marchetti et al. identified an individual with myeloperoxidase deficiency, harboring a compound heterozygote for c.752T>C and c.1705C>T (PMID: 15108282); and another patient harboring c.752T>C and a 14-base deletion (PMID: 9354683). Conservatively, we interpret it as a variant of uncertain significance in favor of likely pathogenic. ACMG/AMP criteria applied: PM3_Strong, PP4, BS1. |
Diagnostic Laboratory, |
RCV001528671 | SCV001740804 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001528671 | SCV001932963 | likely benign | not provided | no assertion criteria provided | clinical testing |