ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.158-1G>A (rs151155897)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216188 SCV001387970 pathogenic Diamond-Blackfan anemia 2019-07-22 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Diamond-Blackfan anemia (PMID: 19061985). 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. 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). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006110 SCV000026292 pathogenic Diamond-Blackfan anemia 7 2008-12-01 no assertion criteria provided literature only

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