ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys)

gnomAD frequency: 0.00118  dbSNP: rs150393340
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224241 SCV000280624 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000503376 SCV000597901 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317745 SCV000849963 uncertain significance Inborn genetic diseases 2017-09-12 criteria provided, single submitter clinical testing The p.E3745K variant (also known as c.11233G>A), located in coding exon 57 of the VPS13B gene, results from a G to A substitution at nucleotide position 11233. The glutamic acid at codon 3745 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Invitae RCV001079398 SCV001098805 likely benign Cohen syndrome 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079398 SCV001321104 likely benign Cohen syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000224241 SCV001785851 likely benign not provided 2019-11-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003977629 SCV004791095 likely benign VPS13B-related disorder 2022-04-29 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).
Natera, Inc. RCV001079398 SCV001454480 likely benign Cohen syndrome 2020-06-04 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.