ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.957_958insG (p.Arg320fs)

dbSNP: rs2145907149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004692726 SCV005196560 likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-01 reviewed by expert panel curation NM_001754.5(RUNX1):c.957_958insG (p.Arg320fs) is a frameshift variant which is located within the last 50bp of exon 7, therefore not predicted to undergo nonsense-mediated mRNA decay (PVS1_strong). It is downstream of c.98 (PM5_supporting). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_supporting). In summary, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_supporting, PVS1_strong, PM5_supporting.
Revvity Omics, Revvity RCV001784923 SCV002019912 pathogenic not provided 2019-07-23 criteria provided, single submitter clinical testing

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