ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) (rs368906199)

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
Ambry Genetics RCV000716727 SCV000847570 uncertain significance Seizures 2016-08-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655992 SCV000588268 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
GeneDx RCV000188809 SCV000242433 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000457049 SCV000545823 uncertain significance Progressive myoclonic epilepsy 2018-07-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 27 of the SCARB2 protein (p.Arg27Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs368906199, ExAC 0.02%) but has not been reported in the literature in individuals with a SCARB2-related disease. ClinVar contains an entry for this variant (Variation ID: 206722). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. 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.