ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.695G>A (p.Arg232Gln)

dbSNP: rs368711448
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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 RCV004595562 SCV005088316 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-07-11 reviewed by expert panel curation NM_001754.5(RUNX1):c.695G>A (p.Arg232Gln) is a missense variant which does not meet any ACMG/AMP criteria. 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: None
Labcorp Genetics (formerly Invitae), Labcorp RCV001049062 SCV001213096 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-10-24 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. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 232 of the RUNX1 protein (p.Arg232Gln). This variant is present in population databases (rs368711448, gnomAD 0.0009%). 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: 845897). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RUNX1 protein function.

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