ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.266G>C (p.Arg89Pro) (rs764673368)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV000855401 SCV000998461 uncertain significance Diamond-Blackfan anemia 10 2019-08-04 criteria provided, single submitter clinical testing This RPS26 variant is absent from large population datasets and has not been reported in the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, and the arginine residue at this position is evolutionarily conserved across most species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 4 splicing, although this has not been confirmed experimentally to our knowledge. The clinical significance of c.266G>C is uncertain at this time.

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