ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2142C>T (p.Asp714=)

gnomAD frequency: 0.00009  dbSNP: rs373790383
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
Invitae RCV001088312 SCV000559712 likely benign Dilated cardiomyopathy 1W 2024-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000599879 SCV000710974 likely benign not specified 2017-09-12 criteria provided, single submitter clinical testing p.Asp714Asp in Exon 16 of VCL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 18/126488 European chr omosomes by the Genome Aggregation Database Project (gnomAD, http://gnomad.broad institute.org; dbSNP rs373790383).
GeneDx RCV000465519 SCV000729525 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431358 SCV002730101 likely benign Cardiovascular phenotype 2021-06-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000599879 SCV004240849 benign not specified 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960082 SCV004767174 likely benign VCL-related condition 2019-07-16 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).

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.