Submissions for variant NM_001754.5(RUNX1):c.1269C>G (p.Arg423=)

dbSNP: rs544247912

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel	RCV004595617	SCV005088401	likely benign	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	2024-06-24	reviewed by expert panel	curation	Synonymous variant (no REVEL score applicable) with SpliceAI score ≤ 0.20 (0.00) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 0.620 (< 2.0)) (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	RCV001504464	SCV001709342	likely benign	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	2024-10-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004952956	SCV005495326	likely benign	Inborn genetic diseases	2024-11-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004743537	SCV005350138	likely benign	RUNX1-related disorder	2024-03-04	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).