ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.680G>A (p.Ser227Asn)

gnomAD frequency: 0.00001  dbSNP: rs1455317777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210988 SCV001382508 likely benign Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections 2024-05-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978108 SCV005596879 uncertain significance Inborn genetic diseases 2024-11-18 criteria provided, single submitter clinical testing The p.S227N variant (also known as c.680G>A), located in coding exon 2 of the GATA2 gene, results from a G to A substitution at nucleotide position 680. The serine at codon 227 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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