ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.1261A>G (p.Met421Val)

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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 RCV004982372 SCV005596913 uncertain significance Inborn genetic diseases 2024-12-08 criteria provided, single submitter clinical testing The p.M421V variant (also known as c.1261A>G), located in coding exon 5 of the GATA2 gene, results from an A to G substitution at nucleotide position 1261. The methionine at codon 421 is replaced by valine, 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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