ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.355A>G (p.Arg119Gly)

gnomAD frequency: 0.00001  dbSNP: rs146516082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214584 SCV001386270 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2022-10-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 944228). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. This variant is present in population databases (rs146516082, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 119 of the DNMT1 protein (p.Arg119Gly).
Genetic Services Laboratory, University of Chicago RCV001815026 SCV002061956 uncertain significance not specified 2017-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339561 SCV002618893 uncertain significance Inborn genetic diseases 2020-07-21 criteria provided, single submitter clinical testing The p.R119G variant (also known as c.355A>G), located in coding exon 4 of the DNMT1 gene, results from an A to G substitution at nucleotide position 355. The arginine at codon 119 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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