ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.138G>T (p.Ala46=)

dbSNP: rs747525766
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 RCV002264815 SCV002546464 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-04-25 reviewed by expert panel curation NM_001754.5(RUNX1):c.138G>T (p.Ala46=) is a synonymous variant. REVEL score not calculable. SpliceAI predicts: Acceptor loss 0.06, Donor loss 0.02, Acceptor gain 0.00, Donor gain 0.00. (BP4) Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 1.22672 < 2.0 or the variant is the reference nucleotide in one primate and/or three mammal species) (BP7). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001503173 SCV001708022 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2022-06-21 criteria provided, single submitter clinical testing

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.