ClinVar Miner

Submissions for variant NM_000250.2(MPO):c.604G>T (p.Glu202Ter)

gnomAD frequency: 0.00014  dbSNP: rs778013714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578983 SCV000681132 likely pathogenic not provided 2022-05-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published in association with an MPO-related disorder to our knowledge; This variant is associated with the following publications: (PMID: 31589614, 31980526)
Fulgent Genetics, Fulgent Genetics RCV002483551 SCV002797960 likely pathogenic Myeloperoxidase deficiency; Alzheimer disease type 1 2022-04-26 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003388920 SCV004100815 likely pathogenic Myeloperoxidase deficiency 2023-11-02 criteria provided, single submitter clinical testing

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