Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211610 | SCV000295702 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Research Group, |
RCV000211610 | SCV000599396 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284642 | SCV001470532 | likely pathogenic | not provided | 2020-08-12 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. The gain of a new splice site is predicted. Low nucleotide conservation. Statistically enriched in uncharacterized patients vs. unmatched population data. Assessment of experimental evidence suggests this variant results in abnormal protein function. |
Invitae | RCV001853403 | SCV002116503 | pathogenic | Familial hypercholesterolemia | 2021-05-02 | 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 activation of a cryptic splice site in intron 12, which introduces a premature termination codon (PMID: 16159606). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 16159606). ClinVar contains an entry for this variant (Variation ID: 226375). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 12 of the LDLR gene. It does not directly change the encoded amino acid sequence of the LDLR protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. |
Cardiovascular Genetics Laboratory, |
RCV000211610 | SCV000268642 | pathogenic | Hypercholesterolemia, familial, 1 | 2014-04-04 | no assertion criteria provided | clinical testing |