ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.296_298del (p.Phe99del)

dbSNP: rs1553121852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500696 SCV000596789 uncertain significance not specified 2016-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003507286 SCV004249127 likely pathogenic Diamond-Blackfan anemia 2023-12-15 criteria provided, single submitter clinical testing This variant, c.296_298del, results in the deletion of 1 amino acid(s) of the RPL11 protein (p.Phe99del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Diamond-Blackfan anemia (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 436550). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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