ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.668del (p.Gly223fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069202 SCV001234355 pathogenic not provided 2019-12-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RP1 gene (p.Gly223Glufs*41). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1934 amino acids of the RP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RP1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV001075166 SCV001240778 likely pathogenic Retinal dystrophy 2018-10-19 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376206 SCV001573263 likely pathogenic Retinitis pigmentosa 1 2021-04-08 criteria provided, single submitter research The RP1 c.668del 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. Based on this evidence we have classified this variant as Likely Pathogenic.

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