ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)

gnomAD frequency: 0.00002  dbSNP: rs567106336
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073256 SCV001238792 likely pathogenic Retinal dystrophy 2018-09-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090299 SCV001245750 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV001593252 SCV001815967 pathogenic Retinitis pigmentosa 88 2021-06-22 criteria provided, single submitter clinical testing
GeneDx RCV001090299 SCV001988418 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 2032 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 30025130, 33576794)
PreventionGenetics, part of Exact Sciences RCV003405291 SCV004108858 pathogenic RP1L1-related disorder 2023-07-06 criteria provided, single submitter clinical testing The RP1L1 c.1107G>A variant is predicted to result in premature protein termination (p.Trp369*). This variant has been reported in the homozygous state in individuals with Retinitis pigmentosa (Zobor et al. 2018. PubMed ID: 30025130; Weisschuh et al. 2020. PubMed ID: 32531858. Table S1). This variant has also been reported in the heterozygous state in an individual with retinal disorders (Colombo et al. 2021. PubMed ID: 33576794. Table S3). This variant is reported in 0.0071% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-10470501-C-T). Nonsense variants in RP1L1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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