ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2606G>C (p.Gly869Ala)

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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 RCV004624337 SCV005112046 likely pathogenic Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.2606G>C (p.G869A) alteration is located in exon 23 (coding exon 22) of the DNMT3A gene. This alteration results from a G to C substitution at nucleotide position 2606, causing the glycine (G) at amino acid position 869 to be replaced by an alanine (A). for Tatton-Brown-Rahman syndrome; however, its clinical significance for Heyn-Sproul-Jackson syndrome is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

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