ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1851+3G>C

dbSNP: rs2149288538
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001563649 SCV001786636 likely pathogenic Tatton-Brown-Rahman overgrowth syndrome 2020-12-09 criteria provided, single submitter clinical testing The DNMT3A c.1851+3G>C variant is a splice region variant. A literature search was conducted for the gene and cDNA change. The c.1851+3G>C variant was reported in one study in which it was identified in a de novo heterozygous state in one individual with Tatton-Brown-Rahman Syndrome (Tatton-Brown et al. 2018). The c.1851+3G>C variant is not reported in the Genome Aggregation Database in a region of good sequencing coverage so the variant is presumed to be rare. This variant occurs between the ADD and methyltransferase domains, which are functionally important regions of the protein, but in silico tools do not provide consistent information on the effect of this variant on splicing. Based on the application of ACMG criteria, the c.1851+3G>C variant is classified as likely pathogenic for Tatton-Brown-Rahman syndrome.

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