ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)

dbSNP: rs1274176298
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
Invitae RCV001387539 SCV001588203 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1074299). This premature translational stop signal has been observed in individual(s) with HMG-CoA lyase deficiency (PMID: 28583327). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Thr107Profs*48) in the HMGCL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HMGCL are known to be pathogenic (PMID: 9817922, 17692550, 23465862).
Baylor Genetics RCV001387539 SCV004199899 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-05-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831397 SCV002094166 pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2021-02-01 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.