ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.911dup (p.Gly305fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003630889 SCV004451409 pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RUNX1 protein in which other variant(s) (p.Arg320*) have been determined to be pathogenic (PMID: 18723428, 25840971, 31064749, 32208489). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with RUNX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the RUNX1 gene (p.Gly305Trpfs*295). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 176 amino acid(s) of the RUNX1 protein and extend the protein by 118 additional amino acid residues.

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