Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000581160 | SCV000687258 | uncertain significance | Hypercholesterolemia, familial, 1 | 2017-09-28 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance due to insufficient evidence: This variant is a missense variant located in the alpha 2 domain. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has the variant been reported in individuals affected with FH in the literature. This variant is absent in the Exome Aggregation Consortium (ExAC) general population database. |
Ambry Genetics | RCV004024626 | SCV004084197 | likely benign | Cardiovascular phenotype | 2023-08-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Laboratory for Molecular Medicine, |
RCV004017684 | SCV004848121 | likely benign | not specified | 2017-10-04 | criteria provided, single submitter | clinical testing | p.Lys2428Arg in exon 26 of APOB: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 45 species including 37 mammals have an Arg at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not suggest a high likelihood of impact to the protein. ACMG/AMP Criteria applied: PM2, BP4 (Richards 2015). |