ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr) (rs531273434)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256279 SCV000322849 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/192 non-FH alleles
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455575 SCV000538329 uncertain significance not specified 2016-06-16 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Published in 1 paper, classified as polymorphism
Color RCV000771565 SCV000904146 likely benign Familial hypercholesterolemias 2018-10-08 criteria provided, single submitter clinical testing
Invitae RCV000812948 SCV000953278 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 2618 of the APOB protein (p.Ile2618Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs531273434, ExAC 0.009%). This variant has been observed in an individual affected with familial hypercholesterolemia (PMID: 2423465). ClinVar contains an entry for this variant (Variation ID: 265889). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.