ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.158-2A>C

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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 RCV002405831 SCV002705944 pathogenic Diamond-Blackfan anemia 2016-09-09 criteria provided, single submitter clinical testing The c.158-2A>C intronic pathogenic mutation results from an A to C substitution two nucleotides upstream from coding exon 3 in the RPL11 gene. This mutation was reported in a patient with Diamond-Blackfan anemia (DBA) with growth retardation but no malformations; he was reported to be responsive to steroids and had no family history of DBA (Boria I et al. Hum. Mutat., 2010 Dec;31:1269-79). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as pathogenic.

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