ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.590_597del (p.Val197fs)

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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 RCV003448458 SCV004176254 pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-12-09 reviewed by expert panel curation The NM_001754.5(RUNX1):c.590_597del change is a frameshift variant that is predicted to introduce a premature stop codon and is expected to result in nonsense-mediated mRNA decay. This variant is predicted to affect all the biologically relevant transcripts (PVS1). In addition, this is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting), and it affects AA downstream of c.98 (in transcript NM_001754.4) (PM5_supporting). Although, this has been found in a single patient in a large cohort of AML cases (PMID: 27137476), its allele frequency and/or germinal origin is unknown. Therefore, we cannot assess case-study/segregation criteria. In summary, this variant meets the criteria to be classified as pathogenic. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PVS1, PM2_supporting, and PM5_supporting.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV002285101 SCV002574858 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-09-22 criteria provided, single submitter clinical testing

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