Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002419137 | SCV002678611 | pathogenic | Diamond-Blackfan anemia | 2016-06-23 | criteria provided, single submitter | clinical testing | The p.K27* pathogenic mutation (also known as c.79A>T), located in coding exon 2 of the RPS19 gene, results from an A to T substitution at nucleotide position 79. This changes the amino acid from a lysine 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). |