ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.486G>C (p.Arg162Ser) (rs1057519749)

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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 RCV001290696 SCV001478833 likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2020-05-19 reviewed by expert panel curation This missense variant has not been reported in gnomAD (v2 and v3) [PM2]. Although it has not been clearly reported as a germline variant (PMID: 19357396, 20421268, 21714648, 24030381, 28855357, 28927163, 29057546, 31649132), it is located at a residue that directly contacts DNA (PMID: 11276260, 12377125, 12393679, 12807882, 19808697, 28231333) and is considered a hotspot residue (PMID: 31648317, 27294619, 23958918) [PM1]. Although this variant has not been functionally evaluated, computational evidence supports a deleterious effect of this variant [PP3] and another missense variant at the same residue (i.e. p.R162G) is classified as likely pathogenic by the ClinGen MM-VCEP [PM5_supporting]. In summary, this variant meets criteria to be classified as likely pathogenic. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM1, PM2, PM5_supporting, and PP3.
Database of Curated Mutations (DoCM) RCV000441948 SCV000504773 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only

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