Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000815914 | SCV000956393 | pathogenic | Familial hypercholesterolemia | 2018-08-06 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 11-12 of the LDLR gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in several individuals affected with familial hypercholesterolemia (PMID: 24075752, 19467224, 19538517, 7749819, 26020417). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic. |