ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly)

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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 RCV005001469 SCV005627390 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2025-01-15 reviewed by expert panel curation NM_001754.5(RUNX1):c.1193C>G (p.Ala398Gly) is a missense variant which has a REVEL score < 0.50 (0.109), and a SpliceAI score ≤ 0.20 (0.0) (BP4). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, PM2_supporting.
Baylor Genetics RCV004574811 SCV005055510 uncertain significance Acute myeloid leukemia 2023-11-08 criteria provided, single submitter clinical testing

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