ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.787C>T (p.Pro263Ser) (rs370315332)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528679 SCV000638158 uncertain significance Familial platelet disorder with associated myeloid malignancy 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 263 of the RUNX1 protein (p.Pro263Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs370315332, ExAC 0.003%). This variant has been reported in the literature in an individual with chronic myelomonocytic leukemia, but its germline origin is uncertain (PMID: 24904105, 24764152). ClinVar contains an entry for this variant (Variation ID: 464008). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics,Fulgent Genetics RCV000765504 SCV000896807 uncertain significance Familial platelet disorder with associated myeloid malignancy; Acute myeloid leukemia 2018-10-31 criteria provided, single submitter clinical testing

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