Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064953 | SCV001229890 | uncertain significance | Hereditary sensory neuropathy-deafness-dementia syndrome | 2019-05-27 | criteria provided, single submitter | clinical testing | 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DNMT1 cause disease. 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). This sequence change affects a donor splice site in intron 19 of the DNMT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |