ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.230-12_230-9del

dbSNP: rs760230147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459010 SCV000554434 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821308 SCV002066542 uncertain significance not specified 2021-01-25 criteria provided, single submitter clinical testing DNA sequence analysis of the GATA2 gene demonstrated a sequence change in intron 2, c.230-12_230-9del. This change does not appear to have been previously described in patients with GATA2-related disorders and has been described in the gnomAD database with a low population frequency of 0.02% (dbSNP rs780435066). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. 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.
Sema4, Sema4 RCV002256275 SCV002529427 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-03 criteria provided, single submitter curation

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