ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.368C>G (p.Ala123Gly)

gnomAD frequency: 0.00001  dbSNP: rs1085307725
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490029 SCV000577139 uncertain significance not provided 2017-04-10 criteria provided, single submitter clinical testing The A123G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A123G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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