ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.*134C>T

gnomAD frequency: 0.00001  dbSNP: rs1004564780
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 RCV005001165 SCV005627466 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-11-13 reviewed by expert panel curation NM_001754.5(RUNX1):c.*134C>T is a 3' UTR change located in exon 9. It has been identified in three individuals in gnomAD v2 and two individuals in gnomAD v3, with minor allele frequencies (MAF) of 0.00005783 and 0.00001328, respectively. So far, this variant has not been reported in any patients with RUNX1-related diseases. 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.
Illumina Laboratory Services, Illumina RCV001142988 SCV001303482 uncertain significance Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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.