Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cardiovascular Biomarker Research Laboratory, |
RCV000210247 | SCV000266316 | likely benign | Familial hypercholesterolemia 1 | 2015-08-31 | criteria provided, single submitter | research | MAF =<0.3%. "Little/No effect" on the LDL receptor activity based on experimental validation. |
LDLR- |
RCV000210247 | SCV000294983 | likely benign | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Research Group, |
RCV000210247 | SCV000322915 | likely benign | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | 0/212 non-FH alleles |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000210247 | SCV000503239 | likely benign | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 3 / FH-Rome-3 / Software predictions: Conflicting |
U4M - |
RCV000210247 | SCV000583743 | likely pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000210247 | SCV000588518 | likely benign | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000210247 | SCV000607503 | likely benign | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Integrated Genetics/Laboratory Corporation of America | RCV000161966 | SCV000697252 | benign | not provided | 2016-03-11 | criteria provided, single submitter | clinical testing | Variant summary: c.806G>A affects a non-conserved nucleotide, resulting in amino acid change from Gly to Asp. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). Functional study showed that the LDL uptake, binding capacity of LDL, and LDLR expression of variant were similar to those observed in control cells (Etxebarria_2012), indicating the neutral effect. This variant was found in 24/131566 control chromosomes at a frequency of 0.0001824. This variant has been reported in multiple FH patients without strong evidence for causality. Among the reported patients, variant was reported to co-occur with a deleterious LDLR variant c.1045delC in cis (Mozas_2004) and there is at least one family reported with lack of co-segregation of this variant with disease (Bourbon_2008). In addition, variant has been detected in early-onset myocardial infarction case with comparable allele frequency as in controls and multiple publications listed variant as nonpathogenic/benign (Do_2015, Etxebarre_2012, and Benito-Vicente_2015). Considering all, this variant is classified as Benign. |
Invitae | RCV000775049 | SCV000752451 | likely benign | Familial hypercholesterolemia | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Color | RCV000775049 | SCV000909148 | likely benign | Familial hypercholesterolemia | 2018-07-10 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000210247 | SCV001282942 | uncertain significance | Familial hypercholesterolemia 1 | 2018-03-08 | 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. |
Dept. |
RCV000161966 | SCV000189541 | not provided | not provided | no assertion provided | in vitro | ||
CSER _CC_NCGL, |
RCV000148586 | SCV000190300 | uncertain significance | Hypercholesterolaemia | 2014-06-01 | no assertion criteria provided | research | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000210247 | SCV000606229 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research | ||
Iberoamerican FH Network | RCV000210247 | SCV000748174 | likely benign | Familial hypercholesterolemia 1 | 2016-03-01 | no assertion criteria provided | research | |
Natera, |
RCV000775049 | SCV001453894 | likely benign | Familial hypercholesterolemia | 2020-01-01 | no assertion criteria provided | clinical testing |