Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002376054 | SCV002685554 | pathogenic | Diamond-Blackfan anemia | 2014-10-24 | criteria provided, single submitter | clinical testing | The c.88delG pathogenic mutation, located in coding exon 2 of the RPS26 gene, results from a deletion of one nucleotide at nucleotide position 88, causing a translational frameshift with a predicted alternate stop codon (p.V30Cfs*15). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |