ClinVar Miner

Submissions for variant NM_000250.2(MPO):c.752T>C (p.Met251Thr)

gnomAD frequency: 0.00999  dbSNP: rs56378716
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Total submissions: 7
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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
CeGaT Center for Human Genetics Tuebingen RCV001528671 SCV003917950 benign not provided 2023-06-01 criteria provided, single submitter clinical testing MPO: BS1, BS2
PreventionGenetics, part of Exact Sciences 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, BGI Genomics 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, Department of Genetics, University Medical Center Groningen RCV001528671 SCV001740804 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528671 SCV001932963 likely benign not provided no assertion criteria provided clinical testing

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