ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)

gnomAD frequency: 0.00012  dbSNP: rs200453837
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216750 SCV001388562 likely benign Holocarboxylase synthetase deficiency 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001751405 SCV001996107 uncertain significance not provided 2019-09-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002561908 SCV003658977 likely benign Inborn genetic diseases 2021-07-09 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.
Natera, Inc. RCV001216750 SCV002083719 uncertain significance Holocarboxylase synthetase deficiency 2020-10-06 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.