ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.298_299del (p.Ser100fs)

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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 RCV002442210 SCV002751397 pathogenic Diamond-Blackfan anemia 2017-03-15 criteria provided, single submitter clinical testing The c.298_299delTC pathogenic mutation, located in coding exon 4 of the RPL11 gene, results from a deletion of two nucleotides at nucleotide positions 298 to 299, causing a translational frameshift with a predicted alternate stop codon (p.S100Rfs*20). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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