Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002229340 | SCV000285017 | pathogenic | Familial hypercholesterolemia | 2021-04-04 | 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 a 10 nucleotide deletion in exon 12, which introduces a premature termination codon (PMID: 22129472). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 22129472). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 237865). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 11 of the LDLR gene. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. |
| LDLR- |
RCV000231584 | SCV000295601 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
| Centre de Génétique Moléculaire et Chromosomique, |
RCV000231584 | SCV000503395 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 |
| Cardiovascular Research Group, |
RCV000231584 | SCV000599383 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | curation | |
| Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000231584 | SCV000606495 | pathogenic | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research |