ClinVar Miner

Submissions for variant NM_002520.6(NPM1):c.864_873delinsTTTAAGGATTCGTC (p.Trp288fs) (rs1581263026)

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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 RCV000999466 SCV001134991 pathogenic Acute myeloid leukemia with multilineage dysplasia 2020-01-07 no assertion criteria provided clinical testing 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.(Trp288Cysfs*12)] with the same loss of protein domain as other NPM1 mutations identified in hematological malignancies.

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