Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238441 | SCV000294987 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Invitae | RCV001854891 | SCV002157363 | pathogenic | Familial hypercholesterolemia | 2021-01-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 15701167, 31491741). ClinVar contains an entry for this variant (Variation ID: 251465). This variant is also described as C149X in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys270*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238441 | SCV000606233 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |