ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) (rs121434405)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627210 SCV000748197 pathogenic not provided 2018-03-05 criteria provided, single submitter clinical testing The R23X pathogenic variant in the RPL5 gene has been reported previously as an apparently de novo variant in an individual with Diamond-Blackfan anemia (Gazda et al., 2008). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R23X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R23X as a pathogenic variant.
Invitae RCV001217229 SCV001389063 pathogenic Diamond-Blackfan anemia 2019-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg23*) 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 an individual affected with Diamond-Blackfan anemia (PMID: 19061985) and an individual with congenital heart disease (PMID: 28991257). ClinVar contains an entry for this variant (Variation ID: 6179). 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 RCV000006556 SCV000026739 pathogenic Diamond-Blackfan anemia 6 2008-12-01 no assertion criteria provided literature only

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