ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4849C>T (p.Arg1617Ter)

dbSNP: rs948663724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228730 SCV001401146 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2019-10-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DNMT1-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the DNMT1 gene (p.Arg1617*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acids of the DNMT1 protein.

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