ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18715C>T (p.Gln6239Ter) (rs1562643321)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760639 SCV000890531 pathogenic not provided 2018-07-25 criteria provided, single submitter clinical testing The Q6168X variant in the SYNE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q6168X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q6168X as a pathogenic variant.

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