ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1243C>T (p.Gln415Ter)

gnomAD frequency: 0.00001  dbSNP: rs1397702481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV002264722 SCV002546443 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-04-11 reviewed by expert panel curation NM_001754.5(RUNX1):c.1243C>T (p.Gln415Ter) is a null variant predicted to NOT undergo NMD (PVS1_strong SNV tree). 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: PVS1_strong
PreventionGenetics, part of Exact Sciences RCV000680386 SCV000807757 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000761175 SCV000891091 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-01-12 criteria provided, single submitter clinical testing

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