ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.-5_4del (p.Met1_Ala2del)

dbSNP: rs2059419583
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004595561 SCV005088284 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-07-11 reviewed by expert panel curation The NM_001754.5(RUNX1): c.-5_4del (p.Met1_Ala2del) represents an in-frame deletion and is not present in any population databases (gnomAD v2.1.1 and v3.1.2) with a minimum 20x coverage for RUNX1 (PM2_supporting). This variant affects the initiator methionine of the RUNX1 mRNA, located outside the hotspot residues or other residues (AA 89-204) within the RHD, as defined by the MM-VCEP for RUNX1. PM4 criteria apply, as the variant does not alter the predicted protein structure or function. Consequently, the subsequent in-frame methionine is positioned at codon 18. Notably, this variant has not been reported previously in individuals affected by RUNX1-related conditions. In summary, the clinical significance of this variant remains uncertain. ACMG/AMP criteria were applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV001046228 SCV001210122 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2019-03-28 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 variant has not been reported in the literature in individuals with RUNX1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the RUNX1 mRNA. The next in-frame methionine is located at codon 18.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.