ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24127G>T (p.Glu8043Ter) (rs1057520552)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430890 SCV000516006 pathogenic not provided 2015-03-11 criteria provided, single submitter clinical testing The E7972X variant in the SYNE1 gene has not been reported previously as a pathogenic variant,nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The E7972X variant wasnot observed in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretE7972X as a pathogenic variant.

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