Submissions for variant NM_001754.5(RUNX1):c.*613A>T

gnomAD frequency: 0.00315  dbSNP: rs191743993

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel	RCV002264689	SCV002546407	benign	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	2022-02-11	reviewed by expert panel	curation	NM_001754.5(RUNX1):c.*613A>T is a 3' UTR variant. MAF of 0.004884(0.4884%, 332/67974) in the European(Non-Finnish) subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.0015 (0.15%)(BA1). One homozygote found in gnomAD v33.1.2 (BP2). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP2
Illumina Laboratory Services, Illumina	RCV000324941	SCV000435925	benign	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.