ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val)

gnomAD frequency: 0.00001  dbSNP: rs1465869942
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
Ambry Genetics RCV002315430 SCV000849305 uncertain significance Inborn genetic diseases 2021-11-30 criteria provided, single submitter clinical testing The c.8323A>G (p.I2775V) alteration is located in exon 45 (coding exon 44) of the VPS13B gene. This alteration results from a A to G substitution at nucleotide position 8323, causing the isoleucine (I) at amino acid position 2775 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830592 SCV002082674 uncertain significance Cohen syndrome 2020-09-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742592 SCV005364658 uncertain significance VPS13B-related disorder 2024-07-26 no assertion criteria provided clinical testing The VPS13B c.8248A>G variant is predicted to result in the amino acid substitution p.Ile2750Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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.