Submissions for variant NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)

gnomAD frequency: 0.00003  dbSNP: rs201155045

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463544	SCV000541507	likely benign	Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections	2023-12-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000502835	SCV000594922	uncertain significance	not specified	2017-04-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765709	SCV000897070	uncertain significance	Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome	2018-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001150746	SCV001311836	uncertain significance	Deafness-lymphedema-leukemia syndrome	2018-04-20	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Molecular Pathology Research Laboratory, SA Pathology	RCV001541960	SCV001760595	uncertain significance	Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML	2021-07-06	criteria provided, single submitter	curation	No criteria satisfied
Baylor Genetics	RCV003470392	SCV004198626	uncertain significance	Acute myeloid leukemia	2023-09-08	criteria provided, single submitter	clinical testing
GeneDx	RCV004722758	SCV005334411	uncertain significance	not provided	2023-12-07	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an adult with acute myeloid leukemia; however, it is unclear if the variant was germline or somatic (PMID: 30190467); This variant is associated with the following publications: (PMID: 31340620, 30190467)
Ambry Genetics	RCV004975510	SCV005596759	benign	Inborn genetic diseases	2024-08-20	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.