Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237771 | SCV000295699 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237771 | SCV000503423 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
U4M - |
RCV000237771 | SCV000583892 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000237771 | SCV000588612 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000237771 | SCV000607645 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Invitae | RCV001857830 | SCV002131977 | pathogenic | Familial hypercholesterolemia | 2021-03-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant is associated with retention of intron 12, which introduces a premature termination codon (PMID: 21990180). The resulting mRNA is expected to undergo nonsense-mediated decay. Studies have shown that this variant alters LDLR gene expression (PMID: 21990180). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 10790219, 21990180). ClinVar contains an entry for this variant (Variation ID: 252068). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 12 of the LDLR gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237771 | SCV000606536 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |