ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.160dup (p.Arg54fs)

dbSNP: rs1644516691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062578 SCV001227389 pathogenic Diamond-Blackfan anemia 2019-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPL11 are known to be pathogenic (PMID: 19061985, 19773262). This variant has been observed in an individuals with clinical features of Diamond-Blackfan anemia (PMID: 19061985). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg54Lysfs*13) in the RPL11 gene. It is expected to result in an absent or disrupted protein product.

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