ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.72A>G (p.Arg24=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002862206 SCV003223348 pathogenic Diamond-Blackfan anemia 2023-10-23 criteria provided, single submitter clinical testing This sequence change affects codon 24 of the RPL5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPL5 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of 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: 2018732). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003134511 SCV003814294 uncertain significance Diamond-Blackfan anemia 6 2022-08-05 criteria provided, single submitter clinical testing

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