ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)

gnomAD frequency: 0.00029  dbSNP: rs773242093
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
Athena Diagnostics RCV000711303 SCV000841643 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV001049653 SCV001213718 benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001049653 SCV001440448 uncertain significance Cohen syndrome 2019-01-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001049653 SCV001529784 uncertain significance Cohen syndrome 2018-01-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV000711303 SCV002586238 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing VPS13B: PM2:Supporting, BP4
Ambry Genetics RCV002397496 SCV002672148 uncertain significance Inborn genetic diseases 2018-02-14 criteria provided, single submitter clinical testing The p.D2582N variant (also known as c.7744G>A), located in coding exon 41 of the VPS13B gene, results from a G to A substitution at nucleotide position 7744. The aspartic acid at codon 2582 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not conserved however, asparagine is a reference amino acid in several 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 RCV003424304 SCV004116519 uncertain significance VPS13B-related disorder 2024-02-07 criteria provided, single submitter clinical testing The VPS13B c.7669G>A variant is predicted to result in the amino acid substitution p.Asp2557Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of European (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.
Natera, Inc. RCV001049653 SCV001460401 uncertain significance Cohen syndrome 2019-11-11 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.