ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.402T>C (p.Ala134=)

dbSNP: rs1555898635
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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 RCV002264710 SCV002546366 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-07-07 reviewed by expert panel curation This c.402T>C (p.Ala134=) synonymous variant is located at a non-conserved nucleotide per an evolutionary conservation prediction algorithm (PhyloP score = -2.40196 in GRCh38); it is not predicted to have any splicing impact per SpliceAI (BP7+BP4). The variant is absent from population databases, including gnomAD v2 and v3 (PM2_supporting). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1 (version 2): BP4, BP7, and PM2_supporting.
Labcorp Genetics (formerly Invitae), Labcorp RCV000555983 SCV000638143 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-06-04 criteria provided, single submitter clinical testing

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