ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) (rs201493928)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000132658 SCV001137622 pathogenic Retinitis pigmentosa 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001064832 SCV001229757 pathogenic not provided 2020-08-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RP1 gene (p.Arg396*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1761 amino acids of the RP1 protein. This variant is present in population databases (rs201493928, ExAC 0.01%). This variant has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 24339724, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 143134). 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, 29425069, 30027431). Therefore, variants that disrupt this region are expected to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075254 SCV001240869 likely pathogenic Retinal dystrophy 2017-07-10 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376316 SCV001573418 pathogenic Retinitis pigmentosa 1 2021-04-08 criteria provided, single submitter research The RP1 c.1186C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2, PM1. Based on this evidence we have classified this variant as Pathogenic.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132658 SCV000172609 probable-pathogenic Retinitis pigmentosa no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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