ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.500dup (p.Asp168fs)

dbSNP: rs2100685034
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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 RCV002035339 SCV002229754 pathogenic Diamond-Blackfan anemia 2021-11-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RPL5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp168Glyfs*17) 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).

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