ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1450_1451dup (p.Gln485fs)

dbSNP: rs1131691760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493919 SCV000582774 likely pathogenic not provided 2017-05-05 criteria provided, single submitter clinical testing The c.1450_1451dupCG variant in the DNMT3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1450_1451dupCG variant causes a frameshift starting with codon Glutamine 485, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 167 of the new reading frame, denoted p.Gln485GlyfsX167. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1450_1451dupCG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1450_1451dupCG as a likely pathogenic variant.

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