ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3032G>A (p.Arg1011Gln)

dbSNP: rs2089649157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223758 SCV001395920 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2022-08-16 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 951773). This missense change has been observed in individual(s) with clinical features of DNMT1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1011 of the DNMT1 protein (p.Arg1011Gln).
Ambry Genetics RCV002436870 SCV002751412 uncertain significance Inborn genetic diseases 2021-02-17 criteria provided, single submitter clinical testing The p.R995Q variant (also known as c.2984G>A), located in coding exon 28 of the DNMT1 gene, results from a G to A substitution at nucleotide position 2984. The arginine at codon 995 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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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