ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.5602C>T (p.Gln1868Ter)

gnomAD frequency: 0.00001  dbSNP: rs1045490638
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760603 SCV000890495 likely pathogenic not provided 2021-03-16 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 533 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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