Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003925 | SCV000294795 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Robarts Research Institute, |
RCV000003925 | SCV000484764 | likely pathogenic | Familial hypercholesterolemia 1 | criteria provided, single submitter | clinical testing | ||
Centre de Génétique Moléculaire et Chromosomique, |
RCV000003925 | SCV000503182 | pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1/previously described in association with FH |
Cardiovascular Research Group, |
RCV000003925 | SCV000599335 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
Invitae | RCV001186871 | SCV000627042 | pathogenic | Familial hypercholesterolemia | 2019-10-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr188*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with familial hypercholesterolemia in a single family (PMID: 1734722) and has been observed in several individuals with familial hypercholesterolemia (PMID: 8882879). This variant is also known as p.Tyr167* in the literature. ClinVar contains an entry for this variant (Variation ID: 3727). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic. |
Color | RCV001186871 | SCV001353461 | pathogenic | Familial hypercholesterolemia | 2018-11-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003925 | SCV000024090 | pathogenic | Familial hypercholesterolemia 1 | 1992-02-01 | no assertion criteria provided | literature only | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000003925 | SCV000606160 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |