ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs) (rs1571024430)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819548 SCV000960213 pathogenic Diamond-Blackfan anemia 2019-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp59Tyrfs*53) in the RPL5 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 observed in individuals affected with Diamond-Blackfan anemia (PMID: 19061985, 23718193, 21659346). This variant is also known as c.173_4delGA in the literature. Loss-of-function variants in RPL5 are known to be pathogenic (PMID: 19061985, 19773262). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006558 SCV000026741 pathogenic Diamond-Blackfan anemia 6 2008-12-01 no assertion criteria provided literature only

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