ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1024dup (p.Ala342fs)

dbSNP: rs2068635607
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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 RCV001214332 SCV001386009 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala342Glyfs*42) in the GATA2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 139 amino acid(s) of the GATA2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GATA2 deficiency (PMID: 34529785). ClinVar contains an entry for this variant (Variation ID: 944022). This variant disrupts a region of the GATA2 protein in which other variant(s) (p.Ser447Arg) have been determined to be pathogenic (PMID: 25619630, 26702063, 28259234, 28485484). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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