ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.588del (p.Val197fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bone Marrow Failure laboratory,Queen Mary University London RCV001312236 SCV001502672 pathogenic Acute myeloid leukemia 2021-01-20 criteria provided, single submitter research This heterozygous frameshift variant of RUNX1 was identified in a male that had bruising as a child that evolved into AML at age 20 yrs (PMID:20722699). His father, who had thrombocytopenia, was also heterozygous for the variant. Two paternal uncles had TCP, one died of leukaemia aged 44yrs. His paternal grandfather died of leukaemia aged 54 yrs. The following ACMG/AMP criteria were used: PVS1 and PM2.

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