ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.110C>T (p.Ala37Val)

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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 RCV005337504 SCV006000769 uncertain significance Inborn genetic diseases 2025-03-07 criteria provided, single submitter clinical testing The p.A37V variant (also known as c.110C>T), located in coding exon 1 of the GATA2 gene, results from a C to T substitution at nucleotide position 110. The alanine at codon 37 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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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