ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.971del (p.Lys324fs) (rs1576746862)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800905 SCV000940648 pathogenic Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2018-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys324Argfs*2) in the GATA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GATA2-related disease. Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001335241 SCV001528343 pathogenic Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 2018-09-21 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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