ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.1A>C (p.Met1Leu)

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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 RCV003615999 SCV004376696 pathogenic Diamond-Blackfan anemia 2023-10-22 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the RPS19 mRNA. The next in-frame methionine is located at codon 75. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with Diamond-Blackfan anemia (PMID: 24675553, 27329125, 28102861; Invitae). For these reasons, this variant has been classified as Pathogenic.

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