Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000683781 | SCV000811290 | likely pathogenic | not provided | 2023-01-17 | criteria provided, single submitter | clinical testing | This copy number gain of 16p13.11p12.3 involves multiple protein-coding genes. It confers susceptibility to a range of neurodevelopmental disorders, and an increased risk for cardiovascular disease has been noted (Allach El Khattabi et al., J Med Genet. 2018 Oct 4. Pii: jmedgenet-2018-105389. PMID: 30287593). The clinical significance of this recurrent duplication has been debated, because similar duplications are repeatedly observed in uncharacterized controls and in unaffected relatives (Ullmann R et al., Hum Mutat. 2007 Jul;28(7):674-82.PMID: 17480035; Hannes FD et al., J Med Genet. 2009 Apr;46(4):223-32. PMID: 18550696). However, the duplication is enriched patients versus controls in multiple case-control studies (Coe et al., Nat Genet. 2014 Oct;46(10):1063-71., PMID: 25217958; Girirajan et al., N Engl J Med. 2012 Oct 4;367(14):1321-31., PMID: 22970919), with some exceptions (Kaminsky et al., Genet Med. 2011 Sep;13(9):777-84., PMID: 21844811). Thus, the clinical significance of this copy number variant (CNV) is likely pathogenic, with variable expressivity and incomplete penetrance. |