Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003111362 | SCV003794174 | pathogenic | Familial hypercholesterolemia | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 13-15 of the LDLR gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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 individual(s) with familial hypercholesterolemia (PMID: 8409767, 9974426, 15936313, 18718593, 21865347). For these reasons, this variant has been classified as Pathogenic. |