ClinVar Miner

Submissions for variant NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs)

dbSNP: rs1563983151
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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 RCV001075070 SCV001240681 pathogenic Retinal dystrophy 2018-07-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000678633 SCV001440281 likely pathogenic Retinitis pigmentosa 31 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV001868294 SCV002301640 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp850Glufs*15) in the TOPORS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 196 amino acid(s) of the TOPORS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 24265693, 35579903; Invitae). ClinVar contains an entry for this variant (Variation ID: 560511). This variant is located in a region of the TOPORS protein where a significant number of TOPORS nonsense and frameshift mutations have been reported in association with autosomal dominant retinitis pigmentosa (PMID: 35579903, 17924349, 32531858). For these reasons, this variant has been classified as Pathogenic.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678633 SCV000804721 pathogenic Retinitis pigmentosa 31 2016-09-01 no assertion criteria provided clinical testing
OMIM RCV000678633 SCV004244442 pathogenic Retinitis pigmentosa 31 2014-10-01 no assertion criteria provided literature only

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