ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)

gnomAD frequency: 0.00047  dbSNP: rs146460917
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179183 SCV000231389 uncertain significance not provided 2017-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001045015 SCV001208842 likely benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390439 SCV002696919 uncertain significance Inborn genetic diseases 2018-04-20 criteria provided, single submitter clinical testing The p.N3463S variant (also known as c.10388A>G), located in coding exon 55 of the VPS13B gene, results from an A to G substitution at nucleotide position 10388. The asparagine at codon 3463 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003977473 SCV004798608 likely benign VPS13B-related disorder 2022-04-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx RCV000179183 SCV005078968 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26740555, 28719003)
Natera, Inc. RCV001045015 SCV001461455 uncertain significance Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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.