ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.715C>T (p.Gln239Ter)

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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 RCV005217933 SCV005860253 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln239*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GATA2 deficiency (PMID: 36357187). For these reasons, this variant has been classified as Pathogenic.

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