Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000707861 | SCV000836971 | pathogenic | Hypercholesterolemia, familial, 1 | 2018-05-03 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 9-14 of the LDLR gene. It preserves the integrity of the reading frame. Deletion of exons 9-14 in LDLR have been reported in individuals affected with familial hypercholesterolemia (PMID: 16796766, 18325082). This deletion is expected to disrupt the EGF-like domain of the LDLR protein, which is required for ligand binding and release (PMID: 22081141). Numerous missense variants in the deleted region have been determined to be clinically significant (PMID: 18325082, 1301956, 19717150, 22698793, Invitae). This suggests that deletion of this region of the LDLR protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |
Labcorp Genetics |
RCV001388219 | SCV001589099 | pathogenic | Familial hypercholesterolemia | 2018-04-19 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 9-14 of the LDLR gene. It preserves the integrity of the reading frame. Deletion of exons 9-14 in LDLR have been reported in individuals affected with familial hypercholesterolemia (PMID: 16796766, 18325082). This deletion is expected to disrupt the EGF-like domain of the LDLR protein, which is required for ligand binding and release (PMID: 22081141). Numerous missense variants in the deleted region have been determined to be clinically significant (PMID: 18325082, 1301956, 19717150, 22698793, Invitae). This suggests that deletion of this region of the LDLR protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |