ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.19_25dup (p.Gly9fs)

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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 RCV004521051 SCV005037013 pathogenic Diamond-Blackfan anemia 2023-12-07 criteria provided, single submitter clinical testing The c.19_25dupAACAATG pathogenic mutation, located in coding exon 2 of the RPS26 gene, results from a duplication of AACAATG at nucleotide position 19, causing a translational frameshift with a predicted alternate stop codon (p.G9Efs*19). 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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