ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.165G>A (p.Ala55=) (rs766206710)

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Total submissions: 3
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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.
Invitae RCV000639541 SCV000761116 likely benign Familial platelet disorder with associated myeloid malignancy 2017-10-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000680394 SCV000807765 likely benign not provided 2017-06-19 criteria provided, single submitter clinical testing

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