ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1387C>T (p.Pro463Ser)

dbSNP: rs868387185
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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 RCV004696230 SCV005196476 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-16 reviewed by expert panel curation NM_001754.5(RUNX1):c.1387C>T (p.Pro463Ser) is a missense variant which 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: PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV000469722 SCV000550159 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-03-04 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 409816). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 463 of the RUNX1 protein (p.Pro463Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RUNX1-related conditions.

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