ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1166_1181delinsCATG (p.Lys389_Gln394delinsThrTrp)

dbSNP: rs2068625186
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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 RCV001241681 SCV001414715 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2019-10-23 criteria provided, single submitter clinical testing This variant, c.1166_1181delinsCATG, is a complex sequence change that results in the deletion of 6 and insertion of 2 amino acid(s) in the GATA2 protein (p.Lys389_Gln394delinsThrTrp). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GATA2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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