ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1064G>A (p.Arg355His) (rs201945078)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649357 SCV000771184 uncertain significance Hereditary sensory neuropathy type IE 2017-11-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 355 of the DNMT1 protein (p.Arg355His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with DNMT1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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