ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2721-10T>A (rs377355204)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000304011 SCV000338977 uncertain significance not provided 2016-02-04 criteria provided, single submitter clinical testing
Invitae RCV000540474 SCV000651293 uncertain significance Hereditary sensory neuropathy type IE 2018-10-19 criteria provided, single submitter clinical testing This sequence change falls in intron 27 of the DNMT1 gene. It does not directly change the encoded amino acid sequence of the DNMT1 protein. This variant is present in population databases (rs377355204, ExAC 0.01%) but has not been reported in the literature in individuals with a DNMT1-related disease. ClinVar contains an entry for this variant (Variation ID: 285801). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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