ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2261T>G (p.Val754Gly)

dbSNP: rs2038339264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325233 SCV001516218 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2020-01-26 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 754 of the DNMT1 protein (p.Val754Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNMT1-related conditions. This variant is not present in population databases (ExAC no frequency).

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