Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033006 | SCV001196313 | pathogenic | Familial hypercholesterolemia | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 11-12 of the LDLR gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). A similar copy number variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 7749819, 19467224, 19538517, 24075752, 26020417). For these reasons, this variant has been classified as Pathogenic. |