ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs)

dbSNP: rs2056458051
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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 RCV002264780 SCV002546361 likely pathogenic Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2022-01-22 reviewed by expert panel curation The NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) variant is a frameshift variant that is predicted to lead to an elongated RUNX1 protein and that is not predicted to result in nonsense-mediated mRNA decay (PVS1_Strong). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). This variant was found to co-segregate with disease in multiple affected family members, with three or four (4) meioses observed in one family/across 1 family (PP1; PMID: 18723428). This variant has been reported in one proband meeting at least one of the RUNX1-phenotypic criteria (PS4_Supporting; PMID: 18723428). 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: PVS1_Strong, PM2_Supporting, PS4_Supporting and PP1.
Bone Marrow Failure laboratory, Queen Mary University London RCV001312237 SCV001502673 pathogenic Myelodysplasia 2021-01-20 criteria provided, single submitter research This heterozygous, frameshift variant of RUNX1 was identified in a female that was diagnosed with MDS RAEB at age 37 yrs (PMID:18723428). It segregates with the disease in three brothers who have MDS, thrombocytopenia and leukemia, respectively. The following ACMG/AMP criteria were used: PVS1, PM2, PP1 and PP3.

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