Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237284 | SCV000295804 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000237284 | SCV000588625 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284643 | SCV001470533 | pathogenic | not provided | 2020-06-02 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
Invitae | RCV003581637 | SCV004297873 | pathogenic | Familial hypercholesterolemia | 2023-02-10 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 252158). This sequence change creates a premature translational stop signal (p.Trp666*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with familial hypercholesterolemia (PMID: 20809525, 25461735). For these reasons, this variant has been classified as Pathogenic. |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237284 | SCV000606571 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |