ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys)

dbSNP: rs376003468
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000197751 SCV000255374 likely pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2013-07-16 criteria provided, single submitter clinical testing
Molecular Pathology Research Laboratory, SA Pathology RCV001542124 SCV001760792 pathogenic Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to MDS/AML 2021-07-06 criteria provided, single submitter curation PS1, PS4, PM1, PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV000197751 SCV003525660 pathogenic Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2023-06-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GATA2 protein function. ClinVar contains an entry for this variant (Variation ID: 216931). This missense change has been observed in individual(s) with GATA2-related conditions and/or myelodysplastic syndrome (PMID: 21670465, 24077845, 26702063; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 371 of the GATA2 protein (p.Asn371Lys).

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