ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.824C>A (p.Ala275Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004983647 SCV005596912 uncertain significance Inborn genetic diseases 2024-12-08 criteria provided, single submitter clinical testing The p.A275D variant (also known as c.824C>A), located in coding exon 2 of the GATA2 gene, results from a C to A substitution at nucleotide position 824. The alanine at codon 275 is replaced by aspartic acid, an amino acid with dissimilar 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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