Submissions for variant NM_001754.5(RUNX1):c.1077G>C (p.Pro359=)

dbSNP: rs2056458690

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel	RCV004700689	SCV005205612	likely benign	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	2024-09-12	reviewed by expert panel	curation	NM_001754.5(RUNX1):c.1077G>C (p.Pro359=) is a synonymous variant which has a SpliceAI score ≤ 0.20 (0.0) (BP4). This variant has a SpliceAI score ≤ 0.20 (0.0) and evolutionary conservation algorithms predict the site as not being conserved (PhyloP score ≤ 2.0 (-2.88) (BP7). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). 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, PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002208553	SCV002493231	likely benign	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	2022-12-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003896070	SCV004712761	likely benign	RUNX1-related disorder	2021-12-30	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).