ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1401G>A (p.Ala467=)

gnomAD frequency: 0.00008  dbSNP: rs754338287
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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 RCV004595540 SCV005088277 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-07-11 reviewed by expert panel curation NM_001754.5(RUNX1): c.1401G>A (p.Ala467=) is a synonymous variant which has a minor allele frequency (MAF) of 0.0002416 (0.02416%, 10/41392 alleles) in the African/African American population of gnomAD v3.1.2 cohort, between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). It has a SpliceAI score of 0.00 (BP4). Evolutionary conservation algorithms predict the site as not being conserved (PhyloP score -0.503315 < 2.0) (BP7). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1, BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV000870338 SCV001011830 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-09-12 criteria provided, single submitter clinical testing

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