ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.9_12del (p.Phe3fs)

dbSNP: rs1686990557
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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 RCV001044815 SCV001208634 pathogenic Diamond-Blackfan anemia 2019-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe3Leufs*15) in the RPL5 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPL5 are known to be pathogenic (PMID: 19061985, 19773262). This variant has not been reported in the literature in individuals with RPL5-related conditions. This variant is not present in population databases (ExAC no frequency).

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