Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Robarts Research Institute, |
RCV000408757 | SCV000484806 | likely pathogenic | Hypercholesterolemia, familial, 1 | criteria provided, single submitter | clinical testing | ||
Color Diagnostics, |
RCV000775240 | SCV000909494 | pathogenic | Familial hypercholesterolemia | 2022-12-09 | criteria provided, single submitter | clinical testing | This variant deletes 5 nucleotides in exon 4 in the LDLR type A repeat 3 of the LDLR gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with familial hypercholesterolemia (PMID: 27596133, 34037665). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of LDLR function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Labcorp Genetics |
RCV000775240 | SCV001198574 | pathogenic | Familial hypercholesterolemia | 2019-12-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe114Leufs*14) in the LDLR gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). This variant has not been reported in the literature in individuals with LDLR-related conditions. ClinVar contains an entry for this variant (Variation ID: 369870). This variant is not present in population databases (ExAC no frequency). |
All of Us Research Program, |
RCV000408757 | SCV004820152 | pathogenic | Hypercholesterolemia, familial, 1 | 2023-04-10 | criteria provided, single submitter | clinical testing | This variant deletes five nucleotides in exon 4 of the LDLR gene, creating a frameshift and 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 nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss-of-function truncation of the LDLR gene is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic. |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000408757 | SCV000606091 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |