ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) (rs121434389)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695992 SCV000824533 pathogenic Diamond-Blackfan anemia 2018-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg75*) in the RPL11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with Diamond-Blackfan anemia (PMID: 19061985). ClinVar contains an entry for this variant (Variation ID: 5751). Loss-of-function variants in RPL11 are known to be pathogenic (PMID: 19773262, 19061985). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006107 SCV000026289 pathogenic Diamond-Blackfan anemia 7 2008-12-01 no assertion criteria provided literature only

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