Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238137 | SCV000295132 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000238137 | SCV000503279 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 3 , family members = 2 with co-segregation / FH-Bretagne-2 |
U4M - |
RCV000238137 | SCV000583775 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Fundacion Hipercolesterolemia Familiar | RCV000238137 | SCV000607543 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Cardiovascular Genetics Laboratory, |
RCV000238137 | SCV002549734 | pathogenic | Hypercholesterolemia, familial, 1 | 2021-11-23 | criteria provided, single submitter | clinical testing | The LDLR p.Tyr336* (originally p.Tyr315*, FH Bretagne-2) nonsense variant is pathogenic for familial hypercholesterolaemia (FH). It has previously been identified in multiple cohorts of FH patients and is predicted to cause loss of normal protein function through protein truncation (with the loss of the C-terminal ~61% of the protein) and nonsense-mediated mRNA decay. |