ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.122_144del (p.Lys41fs)

dbSNP: rs2100676969
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002053872 SCV002320671 likely pathogenic Diamond-Blackfan anemia 6 2021-09-14 criteria provided, single submitter clinical testing RPL5 NM_000969.3 exon 3 p.Lys41Ilefs*64 (c.122_144del): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop codon 64 amino acids downstream from this location which results in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene (Gazda 2008 PMID:19061985; Ulirsch 2018 PMID:30503522). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.
Revvity Omics, Revvity RCV002053872 SCV003811941 likely pathogenic Diamond-Blackfan anemia 6 2022-10-04 criteria provided, single submitter clinical testing

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