ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1018-5C>T

gnomAD frequency: 0.00002  dbSNP: rs769196688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000474442 SCV000554430 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV003328587 SCV004035854 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV005338188 SCV006007546 uncertain significance Inborn genetic diseases 2025-01-08 criteria provided, single submitter clinical testing The c.1018-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 4 in the GATA2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.

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