ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.183G>A (p.Pro61=)

gnomAD frequency: 0.00454  dbSNP: rs76558016
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV001290694 SCV001478831 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-08-08 reviewed by expert panel curation This synonymous variant is present in gnomAD (v2 and v3) at an allele frequency >0.15% with at least >5 alleles in any general continental population (BA1); in addition, the variant was found in homozygosity in the population database (BP2). Although evolutionary conservation prediction algorithms predict the site as being moderately conserved (PhyloP score: 3.03 > 0.1 [-14.1;6.4]) and the variant is not the reference nucleotide in one primate and/or three mammal species, it 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). In summary, the clinical significance of this variant is benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP2, and BP4.
Genetic Services Laboratory, University of Chicago RCV000194463 SCV000248755 benign not specified 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000194463 SCV000308032 benign not specified 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000471438 SCV000560767 benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2024-01-29 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316087 SCV004015358 benign Acute myeloid leukemia 2023-07-07 criteria provided, single submitter clinical testing

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