ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val)

dbSNP: rs1273605678
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004595567 SCV005088315 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-07-11 reviewed by expert panel curation NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val) is a missense variant has a REVEL score ≤0.50 (0.08) and a SpliceAI score ≤ 0.20 (0.00) (BP4). This variant is not present in population databases (gnomAD v2.1 or v3.1.2) (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: BP4, PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001066565 SCV001231579 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 338 of the RUNX1 protein (p.Ala338Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Rosai Dorfman disease (PMID: 31876204). ClinVar contains an entry for this variant (Variation ID: 860286). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RUNX1 protein function. 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.
Sema4, Sema4 RCV002255618 SCV002535838 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-21 criteria provided, single submitter curation
Baylor Genetics RCV003467835 SCV004209872 uncertain significance Acute myeloid leukemia 2023-05-26 criteria provided, single submitter clinical testing

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