ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) (rs567564095)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000521789 SCV000339589 uncertain significance not provided 2016-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000521789 SCV000616731 likely pathogenic not provided 2020-01-30 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect; specifically, expression studies in E.coli found the activity of the A382T mutant protein to be 0.2% of normal activity (Goodman et al., 1998); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Identified in patients with glutaric acidemia, however zygosity and additional phenotypic information was not reported (Goodman et al., 1998; Alfadhel et al., 2016); This variant is associated with the following publications: (PMID: 9711871, 27629047)
Counsyl RCV000674015 SCV000799284 uncertain significance Glutaric aciduria, type 1 2018-04-09 criteria provided, single submitter clinical testing
Mendelics RCV000674015 SCV001140997 pathogenic Glutaric aciduria, type 1 2019-05-28 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.