ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.844_856del (p.Asp282fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202518 SCV001373631 likely pathogenic Familial platelet disorder with associated myeloid malignancy 2019-09-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RUNX1 gene (p.Asp282Asnfs*25). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 199 amino acids of the RUNX1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RUNX1-related conditions. This variant disrupts the transcriptional activation domain (amino acid residues 318-398), DNA-binding inhibitory domain (residues 398-438), and VWRPY domain (residues 476-480) of the RUNX1 protein (PMID: 22689681, 23753029, 15749889, 14504086). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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