ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1645-10C>A

gnomAD frequency: 0.00001  dbSNP: rs752563425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649364 SCV000771191 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2019-11-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DNMT1-related disease. This variant is present in population databases (rs752563425, ExAC 0.001%). This sequence change falls in intron 20 of the DNMT1 gene. It does not directly change the encoded amino acid sequence of the DNMT1 protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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