ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)

dbSNP: rs2056451534
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245800 SCV001419111 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2021-11-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 970259). This missense change has been observed in individual(s) with thrombocytopenia (PMID: 32935436). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 424 of the RUNX1 protein (p.Ser424Pro).
Genetic Services Laboratory, University of Chicago RCV001819950 SCV002067878 uncertain significance not specified 2022-01-04 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001245800 SCV002515682 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-07-04 criteria provided, single submitter clinical testing The variant doesn't co-segregate with thrombocytopenia in the family of the index case.
Sema4, Sema4 RCV002256720 SCV002535845 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-09 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV004692325 SCV005195124 uncertain significance not provided criteria provided, single submitter not provided
Birmingham Platelet Group; University of Birmingham RCV001270550 SCV001450849 likely pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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