Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001378678 | SCV001576301 | uncertain significance | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2023-09-11 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 3 of the RUNX1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. This variant is present in population databases (rs375131372, gnomAD 0.002%). Disruption of this splice site has been observed in individual(s) with acute myeloid leukemia (PMID: 33075818). ClinVar contains an entry for this variant (Variation ID: 1067421). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |