ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1017+525C>T

dbSNP: rs916833024
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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 RCV000870029 SCV001011499 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-12-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816990 SCV002070318 uncertain significance not specified 2021-01-08 criteria provided, single submitter clinical testing DNA sequence analysis of the GATA2 gene demonstrated a sequence change in intron 4, c.1017+525C>T. This change does not appear to have been previously described in patients with GATA2-related disorders; however other deep intronic variants in intron 4 of the GATA2 gene have been described in association with increased susceptibility to myelodysplastic syndrome or in patients with MonoMAC syndrome (PMIDs: 23365458, 26702063, 26492932, 23502222). This sequence change is absent in the gnomAD database. In silico analysis of splicing effects are uninformative for deep intronic changes. It is possible that this sequence change represents a benign sequence change in the GATA2 gene that has not been identified to date. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.

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