Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003483256 | SCV004230171 | pathogenic | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | The copy number loss of 16p13.3 involves multiple protein coding genes. Overlapping deletions of this region have been reported in patients with infantile severe polycystic kidney disease with tuberous sclerosis (PKDTS; OMIM 600273, Ariyurek 2004, Boehm 2007, Consugar 2008, Oyazato 2011, Kozlowski 2007, Reyna-Fabian 2020, Sampson 1997). Haploinsufficiency of TSC2 and PKD1 are associated with the autosomal dominant disorders tuberous sclerosis 2 (OMIM 613254) and polycystic kidney disease 1 (OMIM 173900), respectively. Thus, the classification of this copy number variant (CNV) is pathogenic. References: Ariyurek et al., Hum Mutat. 2004 Jan;23(1):99. PMID: 14695542 Boehm et al., Am J Kidney Dis. 2007 Jan;49(1):e11-21. PMID: 17185137 Consugar et al., Kidney Int. 2008 Dec;74(11):1468-79. PMID: 18818683 Kozlowski et al., Hum Genet. 2007 May;121(3-4):389-400. PMID: 17287951 Oyazato et al., Kobe J Med Sci. 2011 Jun 9;57(1):E1-10, PMID: 22169896 Reyna-Fabian et al., Nefrologia (Engl Ed). Jan-Feb 2020;40(1):91-98. PMID: 31176519 Sampson et al., Am J Hum Genet. 1997 Oct;61(4):843-51. PMID: 9382094 |