ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile)

gnomAD frequency: 0.00001  dbSNP: rs370114565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797691 SCV000937265 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 347 of the RUNX1 protein (p.Met347Ile). This variant is present in population databases (rs370114565, gnomAD 0.001%). This missense change has been observed in individual(s) with RUNX1-related conditions (PMID: 34166225). ClinVar contains an entry for this variant (Variation ID: 643883). 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) has been performed at Invitae 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.
CeGaT Center for Human Genetics Tuebingen RCV000997828 SCV001153556 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467364 SCV004209856 uncertain significance Acute myeloid leukemia 2023-08-15 criteria provided, single submitter clinical testing

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