ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu)

gnomAD frequency: 0.00004  dbSNP: rs965365158
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001864260 SCV002125671 uncertain significance Cohen syndrome 2022-06-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1707 of the VPS13B protein (p.Lys1707Glu). This variant is present in population databases (no rsID available, gnomAD 0.004%). This missense change has been observed in individual(s) with VPS13B-related conditions (PMID: 30290665). 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: "Possibly Damaging"; 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 RCV003401783 SCV004119908 uncertain significance VPS13B-related disorder 2023-07-04 criteria provided, single submitter clinical testing The VPS13B c.5044A>G variant is predicted to result in the amino acid substitution p.Lys1682Glu. This variant, along with variants in multiple other genes, was reported in an individual with primary immunodeficiency [Reported as VPS13B c.5119A>G (p.Lys1707Glu) via NM_017890.4, Chi et al. 2018. PubMed ID: 30290665]. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-100587980-A-G). 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.