ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.751_752dup (p.Tyr252fs)

dbSNP: rs2107672019
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941808 SCV002230082 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2022-06-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GATA2-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr252Profs*75) in the GATA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GATA2 are known to be pathogenic (PMID: 21670465, 23223431).

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