ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.479_480del (p.Phe160fs)

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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 RCV003072754 SCV003472570 pathogenic Diamond-Blackfan anemia 2022-08-03 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of Diamond-Blackfan anemia (PMID: 30503522). This sequence change creates a premature translational stop signal (p.Phe160Trpfs*24) in the RPL5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPL5 are known to be pathogenic (PMID: 19061985, 19773262). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.

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