ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.2613dup (p.Arg872fs) (rs1449723475)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000504747 SCV001162636 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001073948 SCV001239513 likely pathogenic Retinal dystrophy 2018-07-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092033 SCV001248372 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001092033 SCV001378919 pathogenic not provided 2019-09-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RP1 gene (p.Arg872Thrfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1283 amino acids of the RP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with autosomal dominant retinitis pigmentosa (RP) (PMID:11095597, 27391102, 28041643) and has been observed to segregate with autosomal dominant RP in a family (PMID: 27391102). This variant is also known as c.2608-2609insA in the literature. ClinVar contains an entry for this variant (Variation ID: 437955). This variant disrupts the C-terminus of the RP1 protein. Many variants that disrupt this region have been reported in individuals with either autosomal dominant or autosomal recessive retinitis pigmentosa (PMID: 11527933, 19933189). Therefore, variants that disrupt this region are expected to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Molecular Genetics, University of Zurich RCV001353032 SCV001548146 likely pathogenic Retinitis pigmentosa 1 2021-01-30 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504747 SCV000598689 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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