ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)

dbSNP: rs1553131940
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
Counsyl RCV000668593 SCV000793221 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2017-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668593 SCV002136928 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 203 of the HMGCL protein (p.Gly203Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with 3HMG-CoA lyase deficiency (PMID: 16601870). ClinVar contains an entry for this variant (Variation ID: 553197). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this variant affects HMGCL protein function (PMID: 16601870). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000668593 SCV004172545 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-11 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.