ClinVar Miner

Submissions for variant NM_000182.5(HADHA):c.777G>A (p.Lys259=)

gnomAD frequency: 0.00003  dbSNP: rs142071869
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983540 SCV001131564 likely benign Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2023-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271664 SCV001452967 likely benign Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-05-02 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004735923 SCV005353441 likely benign HADHA-related disorder 2024-04-17 no assertion criteria provided 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.