Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001837776 | SCV000284767 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000456004 | SCV000538327 | uncertain significance | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1 paper, no segs, ExAC: 0.2% European chromosomes |
Laboratory of Genetics and Molecular Cardiology, |
RCV000497223 | SCV000588428 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Robarts Research Institute, |
RCV000497223 | SCV000782842 | uncertain significance | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771109 | SCV000902802 | likely benign | Familial hypercholesterolemia | 2018-05-09 | criteria provided, single submitter | clinical testing | Likely Benign based on current evidence: This variant (also known as p.Pro1116Ser in the mature protein) is a missense variant located in the beta 1 domain of the APOB protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in a Norwegian individual with hypercholesterolemia (PMID: 18710658) but it has also been identified in 464/277174 chromosomes (0.17%) in the general population by the Genome Aggregation Database (gnomAD). This variant allele frequency is greater than expected for the disorder based on prevalence, penetrance, and genetic heterogeneity. Based on available evidence, this variant is classified as Likely Benign. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000845457 | SCV000987546 | likely benign | not provided | criteria provided, single submitter | clinical testing | ||
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000845457 | SCV001133406 | likely benign | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000845457 | SCV001250292 | likely benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | APOB: BP4 |
Illumina Laboratory Services, |
RCV001137957 | SCV001297956 | uncertain significance | Hypercholesterolemia, autosomal dominant, type B | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV000845457 | SCV001802165 | likely benign | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22256951, 18710658) |
Institute of Human Genetics, |
RCV004584375 | SCV002506426 | uncertain significance | See cases | 2022-05-10 | criteria provided, single submitter | clinical testing | ACMG categories: BS2 |
Ambry Genetics | RCV002450671 | SCV002614493 | likely benign | Cardiovascular phenotype | 2021-11-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
GENin |
RCV000771109 | SCV005074060 | benign | Familial hypercholesterolemia | 2022-08-24 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000456004 | SCV001924063 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000845457 | SCV001975473 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004529389 | SCV004104178 | uncertain significance | APOB-related disorder | 2024-03-05 | no assertion criteria provided | clinical testing | The APOB c.3427C>T variant is predicted to result in the amino acid substitution p.Pro1143Ser. This variant has been reported in individuals with hypercholesterolemia or high HDL-C level (Leren et al. 2008. PubMed ID: 18710658; Motazacker et al. 2013. PubMed ID: 23685560. Table SIV). However, it has also been reported in individuals with low lipid or triglyceride levels (Neale et al. 2011. PubMed ID: 21408211; Xing et al. 2012. PubMed ID: 22256951). This variant is reported in 0.28% of alleles in individuals of European (Non-Finnish) descent in gnomAD. In Clinvar, this variant has conflicting interpretations of likely benign and uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/237744/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |