ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2476C>T (p.Arg826Ter) (rs767342365)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760644 SCV000890536 likely pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing The R826X variant in the SZT2 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 R826X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R826X as a likely pathogenic variant.

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