ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2996_2997insTTAA (p.Ser1000_Asp1001insTer) (rs1064793616)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478731 SCV000566609 pathogenic not provided 2015-05-12 criteria provided, single submitter clinical testing The S1000X nonsense variant in the NSD1 gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. It was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. Although thisvariant has not been reported previously to our knowledge, we consider it to be pathogenic.

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