ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.937C>T (p.His313Tyr)

gnomAD frequency: 0.00001  dbSNP: rs2068661887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001301867 SCV001491051 uncertain significance Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2020-01-11 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 313 of the GATA2 protein (p.His313Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with myelodysplastic syndrome (PMID: 29724903). This variant is not present in population databases (ExAC no frequency).
Molecular Pathology Research Laboratory, SA Pathology RCV001542223 SCV001760891 likely pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS4_Supporting, PM1, PM2, PP3

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