Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000798829 | SCV000938462 | pathogenic | Familial hypercholesterolemia | 2019-12-02 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 11-14 of the LDLR gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exons 11-14 has been observed in families and unrelated individuals affected with familial hypercholesterolemia (PMID: 7903864, 29353225, 15936313). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic. |