ClinVar Miner

Submissions for variant NM_001001890.3(RUNX1):c.598G>T (p.Glu200Ter) (rs1555889984)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV000656502 SCV000965613 pathogenic Familial platelet disorder with associated myeloid malignancy 2019-07-29 reviewed by expert panel curation The NM_001001890.2:c.598G>T (p.Glu200Ter) variant is a nonsense variant that is predicted to introduce a premature stop codon and expected to result in nonsense-mediated mRNA decay (PVS1). It is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). This variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_ Supporting; PMID: 30990344). In summary, this variant meets criteria to be classified as pathogenic. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PVS1, PM2, PS4_Supporting.
Department of Hematology - Research Laboratory 1,Postgraduate Institute of Medical Education and Research RCV000656502 SCV000778466 likely pathogenic Familial platelet disorder with associated myeloid malignancy 2018-05-22 no assertion criteria provided research This variant was also found in the affected mother who also had thrombocytopenia. Heterozygosity confirms the reported autosomal dominant mode of inheritance. NM_001001890(RUNX1):c.598 G>T was not found in 60 alleles of unrelated hematologically normal individuals.

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