ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.397-2A>G

dbSNP: rs2124432051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001554969 SCV001776311 likely pathogenic not provided 2019-10-04 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002359168 SCV002623081 likely pathogenic Diamond-Blackfan anemia 2020-02-24 criteria provided, single submitter clinical testing The c.397-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 5 in the RPL11 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. 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 likely pathogenic.

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