Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003927 | SCV000295060 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Research Group, |
RCV000003927 | SCV000599351 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | curation | |
Labcorp Genetics |
RCV000810136 | SCV000950326 | pathogenic | Familial hypercholesterolemia | 2019-01-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). This variant has been observed to segregate with familial hypercholesterolemia in multiple families (PMID: 1634609, 9409302). This variant is also known as a founder mutation FH-North Karelia in the literature. ClinVar contains an entry for this variant (Variation ID: 3729). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro309Lysfs*59) in the LDLR gene. It is expected to result in an absent or disrupted protein product. |
Mayo Clinic Laboratories, |
RCV004791195 | SCV005413307 | pathogenic | not provided | 2024-05-31 | criteria provided, single submitter | clinical testing | PS4, PVS1 |
OMIM | RCV000003927 | SCV000024092 | pathogenic | Hypercholesterolemia, familial, 1 | 1997-11-01 | no assertion criteria provided | literature only | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000003927 | SCV000606271 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |