Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796614 | SCV000936134 | pathogenic | Diamond-Blackfan anemia | 2023-08-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys21Serfs*33) in the RPL11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPL11 are known to be pathogenic (PMID: 19061985, 19773262). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Diamond-Blackfan anemia (PMID: 30503522). ClinVar contains an entry for this variant (Variation ID: 643018). For these reasons, this variant has been classified as Pathogenic. |