Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838164 | SCV001006430 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388400 | SCV002703371 | uncertain significance | Cardiovascular phenotype | 2020-06-08 | criteria provided, single submitter | clinical testing | The c.10476T>A variant (also known as p.I3492I), located in coding exon 26 of the APOB gene, results from a T to A substitution at nucleotide position 10476. This nucleotide substitution does not change the at codon 3492. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003908085 | SCV004726016 | likely benign | APOB-related condition | 2023-07-30 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |