Submissions for variant NM_001754.5(RUNX1):c.165G>A (p.Ala55=)

dbSNP: rs766206710

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel	RCV001195648	SCV001366044	uncertain significance	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	2020-04-10	reviewed by expert panel	curation	This synonymous variant is predicted by SSF and MES to lead to either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created (BP4). However, evolutionary conservation prediction algorithms predict the site as being weakly conserved (PhyloP score: 0.77 < 0.1 [-14.1;6.4]) and the variant is not the reference nucleotide in one primate and/or three mammal species. In addition, this variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4 and PM2.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000639541	SCV000761116	likely benign	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	2017-10-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000680394	SCV000807765	likely benign	not provided	2017-06-19	criteria provided, single submitter	clinical testing