ClinVar Miner

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

dbSNP: rs1576746862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800905 SCV000940648 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2018-10-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431). This variant has not been reported in the literature in individuals with GATA2-related disease. This variant is not present in population databases (ExAC no frequency). 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.
Baylor Genetics RCV001335241 SCV001528343 pathogenic Monocytopenia with susceptibility to infections 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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