ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.256dup (p.Tyr86fs)

dbSNP: rs1553121909
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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 RCV000543851 SCV000637216 pathogenic Diamond-Blackfan anemia 2017-06-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPL5 are known to be pathogenic (PMID: 19773262, 19061985). This variant has not been reported in the literature in individuals with an RPL5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr86Leufs*27) in the RPL5 gene. It is expected to result in an absent or disrupted protein product.

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