ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro)

dbSNP: rs139336358
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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 RCV004693474 SCV005196538 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-07-25 reviewed by expert panel curation NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro) is a missense variant which does not meet any ACMG/AMP criteria. In summary, this variant meets the criteria to be classified as a variant of uncertain significance. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: None.
Labcorp Genetics (formerly Invitae), Labcorp RCV001039511 SCV001203043 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 306 of the RUNX1 protein (p.Arg306Pro). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with RUNX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 838046). 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"). 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.
Baylor Genetics RCV004570121 SCV005055491 uncertain significance Acute myeloid leukemia 2023-12-18 criteria provided, single submitter clinical testing

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