ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.286del (p.Gln96fs)

dbSNP: rs1184002840
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
Counsyl RCV000670074 SCV000794889 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2017-10-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670074 SCV004199898 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2023-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670074 SCV004456195 pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln96Argfs*11) 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). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HMGCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 554439). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000670074 SCV005647163 likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-22 criteria provided, single submitter 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.