ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.968del (p.Thr323fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV003448649 SCV004176256 likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-12-09 reviewed by expert panel curation The NM_001754.5:c.968del (p.Thr323ArgfsTer5) variant in RUNX1 is a frameshift variant that is not expected to result in nonsense-mediated mRNA decay, but the predicted truncated/altered region is critical for protein function (PVS1_strong). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 in gnomAD v2.1.1 and v3.1.2 (PM2_supporting). This variant was identified in a patient meeting at least one of the RUNX1-phenotypic criteria (PS4_supporting; internal data). The de novo status has been confirmed (PS2_supporting). In summary, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PVS1_strong, PM2_supporting, PS2_supporting, PS4_supporting.

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