ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)

dbSNP: rs1399187182
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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 RCV000536783 SCV005196557 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-07-17 reviewed by expert panel curation NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) 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 RCV000536783 SCV000638153 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-06-16 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. Studies have shown this missense change is associated with skipping of exon 3, but one or more of the resulting mRNA isoform(s) may be naturally occurring (Invitae). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 464003). This variant has not been reported in the literature in individuals affected with RUNX1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 24 of the RUNX1 protein (p.Gly24Arg).
Baylor Genetics RCV003470745 SCV004209840 uncertain significance Acute myeloid leukemia 2023-10-08 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000536783 SCV004037545 not provided Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 12-05-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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