Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000631374 | SCV000752435 | benign | Familial hypercholesterolemia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000631374 | SCV001341920 | likely benign | Familial hypercholesterolemia | 2018-11-19 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001420939 | SCV001623400 | likely benign | not specified | 2021-05-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002334060 | SCV002618612 | likely benign | Cardiovascular phenotype | 2018-07-12 | 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. |
| Victorian Clinical Genetics Services, |
RCV002470938 | SCV002769528 | likely benign | Hypercholesterolemia, familial, 1 | 2020-10-19 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.3, this variant is classified as likely benign. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with familial hypercholesterolemia 1 (MIM#143890) and LDL cholesterol level QTL2 (MIM#143890). (I) 0107 - This gene is associated with autosomal dominant disease however compound heterozygotes and homozygotes have been reported (OMIM; PMID: 10978268). (I) 0200 - Variant is predicted to result in a synonymous change. (I) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v3) <0.001 for a dominant condition (25 heterozygotes, 0 homozygotes). (SP) 0506 - Abnormal splicing is not predicted and nucleotide is poorly conserved. (SB) 0600 - Variant is located in an annotated LDLa superfamily domain (NCBI, PDB). (I) 0705 - No comparable synonymous variants have previous evidence for pathogenicity. However, a different variant affecting the same nucleotide, c.345C>T (p.(Arg115=) has been reported by a research laboratory (ClinVar). (I) 0806 - This variant has moderate previous evidence of being benign in unrelated individuals. This variant has been reported as likely benign and benign in ClinVar. (SB) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
| All of Us Research Program, |
RCV002470938 | SCV004820153 | likely benign | Hypercholesterolemia, familial, 1 | 2023-12-01 | criteria provided, single submitter | clinical testing |