ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.2T>G (p.Met1Arg)

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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 RCV002648164 SCV003522762 pathogenic Diamond-Blackfan anemia 2022-08-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individuals with Diamond-Blackfan anemia (PMID: 19773262, 20378560, 20960466, 30503522; Invitae). This sequence change affects the initiator methionine of the RPL5 mRNA. The next in-frame methionine is located at codon 51.

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