Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003928 | SCV000294914 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Robarts Research Institute, |
RCV000003928 | SCV000484681 | likely pathogenic | Familial hypercholesterolemia 1 | criteria provided, single submitter | clinical testing | ||
Centre de Génétique Moléculaire et Chromosomique, |
RCV000003928 | SCV000503223 | pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 4 , family members = 9 with co-segregation |
Molecular Genetics Laboratory, |
RCV000003928 | SCV000540756 | pathogenic | Familial hypercholesterolemia 1 | 2016-11-05 | criteria provided, single submitter | clinical testing | |
U4M - |
RCV000003928 | SCV000583728 | pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000003928 | SCV000588513 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Color | RCV000775046 | SCV000909144 | pathogenic | Familial hypercholesterolemia | 2018-06-18 | criteria provided, single submitter | clinical testing | Pathogenic variant based on current evidence: This variant is a single nucleotide substitution in exon 4 of the LDLR gene, which creates a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant. While this variant is rare in the general population (0/277264 chromosomes in the Genome Aggregation Database (gnomAD)), it has been reported in multiple individuals affected with familial hypercholesterolemia (PMID: 8093663, 16389549, 22883975). Truncating variants in LDLR are known to be pathogenic (PMID: 20809525). Based on available evidence, this variant is classified as Pathogenic. |
Invitae | RCV000775046 | SCV000952013 | pathogenic | Familial hypercholesterolemia | 2018-08-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys231*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in many individuals affected with familial hypercholesterolemia (PMID: 8093663, 22698793, 27680772, 16389549, 22883975, 20145306, 21310417, 10559517). This variant is also known as Cys210X in the literature. ClinVar contains an entry for this variant (Variation ID: 3730). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000003928 | SCV000024093 | pathogenic | Familial hypercholesterolemia 1 | 1993-01-01 | no assertion criteria provided | literature only | |
Cardiovascular Genetics Laboratory, |
RCV000003928 | SCV000268583 | pathogenic | Familial hypercholesterolemia 1 | 2008-07-09 | no assertion criteria provided | clinical testing |