Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002433453 | SCV002747994 | pathogenic | Diamond-Blackfan anemia | 2015-10-14 | criteria provided, single submitter | clinical testing | The p.M1? pathogenic mutation (also known as c.2T>G), located in coding exon 1 of the RPS17 gene, results from a T to G substitution at nucleotide position 2. This alters the methionine residue at the initiation codon. This mutation was found de novo in a patient with typical anemia, dysmorphic facial features, and short stature and was not observed in 71 healthy controls (Cmejla et al 2007. Hum Mutat.28(12):1178-82). A different mutation in the same codon (c.1A>G) was reportedly identified in a Korean patient with DBA (Song MJ, Pediatr Blood Cancer 2010 Apr; 54(4):629-31). In addition to the clinical data presented in the literature, since sequence variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation or N-terminal truncation, 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). |
| OMIM | RCV000013873 | SCV000034120 | pathogenic | Diamond-Blackfan anemia 4 | 2007-12-01 | no assertion criteria provided | literature only |