ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1148dup (p.Asn383fs)

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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 RCV002815853 SCV003210544 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2022-06-09 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GATA2 protein in which other variant(s) (p.Arg396Gln) have been determined to be pathogenic (PMID: 22430350, 22533337, 24077845, 25624456). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with GATA2-related conditions. This sequence change results in a frameshift in the GATA2 gene (p.Asn383Lysfs*153). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 98 amino acid(s) of the GATA2 protein and extend the protein by 54 additional amino acid residues.

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