ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter)

dbSNP: rs767562322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760938 SCV000890834 likely pathogenic not provided 2019-01-28 criteria provided, single submitter clinical testing The Q517X variant in the RP1L1 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 through protein truncation, as the last 1,884 amino acids are lost. The Q517X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q517X as a likely pathogenic variant.

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