Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708177 | SCV000837287 | pathogenic | Hypercholesterolemia, familial, 1 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 16 of the LDLR gene. It preserves the integrity of the reading frame. A similar deletion of exon 16 has been reported in several individuals affected with familial hypercholesterolemia (PMID: 1978682, 7749819, 19446849). Experimental studies have shown that a deletion of exon 16 results in reduced LDL-receptor ligand binding (PMID: 7749819). For these reasons, this variant has been classified as Pathogenic. |