Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238466 | SCV000294859 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Labcorp Genetics |
RCV000799450 | SCV000939113 | pathogenic | Familial hypercholesterolemia | 2018-09-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). This variant has been observed in an individual affected with familial hypercholesterolemia (PMID: 15359125). This variant is also known as 661.677del in the literature. ClinVar contains an entry for this variant (Variation ID: 251355). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp221*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. |