ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4224+707C>G

gnomAD frequency: 0.00001  dbSNP: rs1821585422
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Developmental Genetics, Institut Pasteur RCV001257289 SCV001433835 uncertain significance Pituitary stalk interruption syndrome 2020-04-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001879967 SCV002223747 uncertain significance Cohen syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1433 of the VPS13B protein (p.Ser1433Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 978572). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
PreventionGenetics, part of Exact Sciences RCV003416133 SCV004117307 uncertain significance VPS13B-related disorder 2023-04-25 criteria provided, single submitter clinical testing The VPS13B c.4298C>G variant is predicted to result in the amino acid substitution p.Ser1433Cys. This variant was reported in an individual with pituitary stalk interruption syndrome, however a second plausible causative variant in VPS13B was not identified and the individual also had a missense variant in ARID1B (Patient 13 in Table 2, Brauner et al. 2020. PubMed ID: 33270637). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.