ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)

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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 RCV002857223 SCV003224049 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with bone marrow failure (PMID: 29146883). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr141*) 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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