Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clin |
RCV005052828 | SCV005686417 | uncertain significance | Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 2025-01-15 | reviewed by expert panel | curation | NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) is a missense variant which has a REVEL score < 0.50 (0.385), and a SpliceAI score ≤ 0.20 (0.03) (BP4). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, PM2_supporting. |
| Ambry Genetics | RCV006372143 | SCV007232741 | uncertain significance | Inborn genetic diseases | 2025-09-28 | criteria provided, single submitter | clinical testing | The p.A55E variant (also known as c.164C>A), located in coding exon 3 of the RUNX1 gene, results from a C to A substitution at nucleotide position 164. The alanine at codon 55 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Illumina Laboratory Services, |
RCV001143085 | SCV001303584 | uncertain significance | Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 2018-03-02 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Nadeem Sheikh Lab, |
RCV002276633 | SCV002564647 | likely pathogenic | Acute myeloid leukemia | no assertion criteria provided | clinical testing |