ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5509+2T>G

dbSNP: rs1581497997
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003232197 SCV001226688 pathogenic Sotos syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 16 of the NSD1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with Sotos syndrome (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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