Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001216188 | SCV001387970 | pathogenic | Diamond-Blackfan anemia | 2019-07-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RPL11 are known to be pathogenic (PMID: 19061985, 19773262). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to be de novo in an individual affected with Diamond-Blackfan anemia (PMID: 19061985). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 2 of the RPL11 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
OMIM | RCV000006110 | SCV000026292 | pathogenic | Diamond-Blackfan anemia 7 | 2008-12-01 | no assertion criteria provided | literature only |