ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1042_1092dup (p.Cys348_Ala364dup)

dbSNP: rs2068633920
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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 RCV001316672 SCV001507303 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2022-08-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1017513). This variant has not been reported in the literature in individuals affected with GATA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1042_1092dup, results in the insertion of 17 amino acid(s) of the GATA2 protein (p.Cys348_Ala364dup), but otherwise preserves the integrity of the reading frame.

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