Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001864673 | SCV002140297 | pathogenic | Familial hypercholesterolemia | 2021-12-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is also known as p.E387X. This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 15556093). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu408*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). |