Submissions for variant NM_001754.5(RUNX1):c.492C>T (p.Val164=)

gnomAD frequency: 0.00008  dbSNP: rs200907577

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel	RCV002264672	SCV002546418	likely benign	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	2022-07-05	reviewed by expert panel	curation	NM_001754.5(RUNX1):c.492C>T (p.Val164=) is a synonymous variant. No REVEL score because a synonymous variant and SpliceAI is ≤0.20( 0.01 Donor Loss -16bp and 0.11 Donor Gain 7bp) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP 1.91014 ≤ 2.0) meeting 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 and BP7.
Invitae	RCV000229993	SCV000287186	benign	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	2024-01-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818593	SCV002069948	uncertain significance	not specified	2019-11-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257543	SCV002535866	benign	Hereditary cancer-predisposing syndrome	2020-05-29	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316253	SCV004015364	likely benign	Acute myeloid leukemia	2023-07-07	criteria provided, single submitter	clinical testing