ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6010-1G>A (rs1057520620)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421475 SCV000516615 pathogenic not provided 2015-04-21 criteria provided, single submitter clinical testing The c.6010-1 G>A splice site variant in the NSD1gene destroys the canonical splice acceptor site inintron 19. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that issubject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used forprotein translation. Although this variant has not been previously reported to our knowledge, we consider it to be pathogenic.

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