Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031793 | SCV001195099 | pathogenic | Familial hypercholesterolemia | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exon(s) 7-12 of the LDLR gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may 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 individuals with familial hypercholesterolemia (PMID: 21376320, 23415438). For these reasons, this variant has been classified as Pathogenic. |