ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5036C>G (p.Ser1679Ter) (rs1064796184)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482256 SCV000572661 pathogenic not provided 2017-01-03 criteria provided, single submitter clinical testing The S1679X nonsense variant in the NSD1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S1679X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server) Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with the diagnosis of Sotos syndrome in this individual.

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