Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211657 | SCV000295992 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Robarts Research Institute, |
RCV000211657 | SCV000484810 | likely pathogenic | Familial hypercholesterolemia 1 | criteria provided, single submitter | clinical testing | ||
Centre de Génétique Moléculaire et Chromosomique, |
RCV000211657 | SCV000503485 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 8 , family member = 1 with co-segregation / systematically associated with c.1690A>C, p.Asn564His |
U4M - |
RCV000211657 | SCV000583949 | pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000211657 | SCV000588664 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000211657 | SCV000607704 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Iberoamerican FH Network | RCV000211657 | SCV000748064 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Robarts Research Institute, |
RCV000211657 | SCV000782941 | likely pathogenic | Familial hypercholesterolemia 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001034620 | SCV000820238 | uncertain significance | Familial hypercholesterolemia | 2019-11-08 | criteria provided, single submitter | clinical testing | This variant, c.2397_2405delCGTCTTCCT, results in the deletion of 3 amino acids of the LDLR protein (p.Val800_Leu802del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported on the same chromosome (in cis) with p.Asn564His in several individuals affected with hypercholesterolemia (PMID: 9147888, 9143924, 12442279, 10090484, 30795984). This variant is also known as 2393del9 in the literature. ClinVar contains entries for this variant (Variation ID: 3737, 226394). Experimental studies have shown that this variant has a mild impact on LDLR protein function. However, when expressed with p.Asn564His in the same cDNA, LDLR receptor function was greatly reduced (PMID: 9143924). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Brunham Lab, |
RCV000211657 | SCV001432566 | likely pathogenic | Familial hypercholesterolemia 1 | 2019-01-27 | criteria provided, single submitter | research | |
Cardiovascular Genetics Laboratory, |
RCV000211657 | SCV000268667 | pathogenic | Familial hypercholesterolemia 1 | 2012-08-01 | no assertion criteria provided | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000211657 | SCV000606642 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |