ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6152-5T>G (rs755758018)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694746 SCV000823204 pathogenic Beckwith-Wiedemann syndrome 2017-08-14 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the NSD1 gene. It does not directly change the encoded amino acid sequence of the NSD1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NSD1-related disease. However, family studies have indicated that this variant was not present in the parents of an individual with suspected Sotos syndrome, which suggests that it was de novo in that affected individual (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site and create a novel splice site 4 nucleotides into the intron, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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