ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)

gnomAD frequency: 0.00030  dbSNP: rs141637316
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194526 SCV000249404 uncertain significance not specified 2015-03-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348314 SCV000470787 uncertain significance Cohen syndrome 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000348314 SCV000630867 likely benign Cohen syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317717 SCV000849726 likely benign Inborn genetic diseases 2017-05-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000348314 SCV001653473 likely benign Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001706170 SCV001870047 likely benign not provided 2019-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706170 SCV004158257 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
Natera, Inc. RCV000348314 SCV001454823 likely benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001706170 SCV001918322 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706170 SCV001968180 likely benign not provided 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.