ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.2048A>G (p.Gln683Arg) (rs372585253)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718073 SCV000848935 uncertain significance History of neurodevelopmental disorder 2018-07-24 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001207143 SCV001378483 uncertain significance Cohen syndrome 2019-11-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 683 of the VPS13B protein (p.Gln683Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs372585253, ExAC 0.03%). This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 588752). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.