Submissions for variant NM_001754.5(RUNX1):c.828C>A (p.Ser276=)

gnomAD frequency: 0.00001  dbSNP: rs1376894886

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel	RCV004595608	SCV005088267	likely benign	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	2024-07-11	reviewed by expert panel	curation	NM_001754.5(RUNX1):c.828C>A (p.Ser276=) is a synonymous variant which has a SpliceAI score ≤ 0.20 (0.0) (BP4). Evolutionary conservation algorithms predict the site as not being conserved (PhyloP score 0.55 < 2.0) or the variant is the reference nucleotide in one primate (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	RCV001482818	SCV001687197	likely benign	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	2024-02-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965977	SCV004785391	likely benign	RUNX1-related disorder	2023-12-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).