ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.352-141_352-137del

dbSNP: rs56243517
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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 RCV004595628 SCV005088250 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation NM_001754.5(RUNX1):c.352-141_352-137del variant is an intronic variant which is absent from all population databases, including gnomAD v2.1.1 and v3.1.2, with at least 20x coverage for RUNX1 (PM2_supporting). In addition, splicing algorithms predicted no effect on splicing (SpliceAI score < 0.20) (BP4), and evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP100way (GRCh38/hg38) scores 0.0926535 to -0.560732 < 2.0 for all deleted nucleotides) (BP7). To our knowledge, this variant has not been found in patients with FPD/AML phenotype, and no functional studies are available. In summary, this variant meets the criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7, PM2_supporting.
GeneDx RCV001680397 SCV001898024 benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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