ClinVar Miner

Submissions for variant NM_199185.3(NPM1):c.782_788delinsCCCTGGCTAGG (p.Trp261fs) (rs1561878500)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Haematology Laboratory,NSW Health Pathology RCV000779592 SCV000902455 pathogenic Acute myeloid leukemia 2019-05-15 criteria provided, single submitter clinical testing Identified in a newly diagnosed 81 year old male with acute myeloid leukemia. The locus of the mutation is in the mutational hotspot for NPM1 mutations in acute myeloid leukemia and results in a frameshift [NM_002520.6(NPM1_i001):p.(Trp290Serfs*10)] with the same loss of protein domain as other NPM1 mutations identified in this disease.

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