ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.325_326dup (p.Glu110fs)

gnomAD frequency: 0.00003  dbSNP: rs749330477
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000001931 SCV003525033 pathogenic D-2-hydroxyglutaric aciduria 1 2022-08-23 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with D-2-hydroxyglutaric aciduria (PMID: 16081310). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1857). This variant is also known as c.326–327dupTC, p.Glu110ArgfsX19. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu110Argfs*18) in the D2HGDH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in D2HGDH are known to be pathogenic (PMID: 16081310, 20020533, 21384162).
OMIM RCV000001931 SCV000022089 pathogenic D-2-hydroxyglutaric aciduria 1 2005-09-01 no assertion criteria provided literature only

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.