ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.6376C>T (p.Gln2126Ter) (rs1064796755)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486518 SCV000573799 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing The Q2126X 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. The Q2126X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret Q2126X as a variant of uncertain significance.

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