ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.1A>C (p.Met1Leu)

dbSNP: rs2100672432
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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 RCV001380814 SCV001578994 pathogenic Diamond-Blackfan anemia 2020-01-06 criteria provided, single submitter clinical testing Disruption of the initiator codon for the RPL5 gene has been observed in individuals with Diamond-Blackfan anemia (PMID: 20960466, 19773262, 30503522, 20378560, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the RPL5 mRNA. The next in-frame methionine is located at codon 51. For these reasons, this variant has been classified as Pathogenic.

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