ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.33del (p.Met12fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002452034 SCV002612634 pathogenic Diamond-Blackfan anemia 2016-06-22 criteria provided, single submitter clinical testing The c.33delC pathogenic mutation, located in coding exon 2 of the RPL11 gene, results from a deletion of one nucleotide at position 33, causing a translational frameshift with a predicted alternate stop codon (p.M12Cfs*22). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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