ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter)

dbSNP: rs1060503527
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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 RCV000466439 SCV000553280 pathogenic Diamond-Blackfan anemia 2019-11-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr44*) in the RPL5 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RPL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 411871). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPL5 are known to be pathogenic (PMID: 19061985, 19773262).

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