Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002401241 | SCV002706905 | pathogenic | Diamond-Blackfan anemia | 2014-08-18 | criteria provided, single submitter | clinical testing | The p.Y54* pathogenic mutation (also known as c.162C>G) located in coding exon 2 of the RPS19 gene, results from a C to G substitution at nucleotide position 162. This changes the amino acid from a tyrosine to a stop codon within coding exon 2. Since premature stop codons 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). |