ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.508-9_508-5del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002335915 SCV002640517 likely pathogenic Diamond-Blackfan anemia 2016-11-23 criteria provided, single submitter clinical testing The c.508-9_508-5delCTCTT intronic variant, located in intron 5 of the RPL11 gene, results from a deletion of 5 nucleotides within intron 5 of the RPL11 gene. In our internal cohort, this variant was observed in two unrelated individuals meeting diagnostic criteria for Diamond-Blackfan Anemia. These nucleotide positions are well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002464653 SCV002759355 uncertain significance Diamond-Blackfan anemia 7 2022-12-07 criteria provided, single submitter clinical testing

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