ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1484_1489del

dbSNP: rs778109389
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665303 SCV000789397 uncertain significance Glycine encephalopathy 2017-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665303 SCV000962919 uncertain significance Glycine encephalopathy 2022-11-01 criteria provided, single submitter clinical testing This variant, c.1484_1489del, results in the deletion of 2 amino acid(s) of the GLDC protein (p.Glu495_Leu496del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs778109389, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with GLDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 550535). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV001584531 SCV001821120 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000665303 SCV002777650 uncertain significance Glycine encephalopathy 2022-05-17 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989575 SCV004806159 uncertain significance Glycine encephalopathy 1 2024-03-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001584531 SCV005196304 uncertain significance not provided criteria provided, single submitter not provided
3billion RCV003989575 SCV005328804 likely benign Glycine encephalopathy 1 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Athena Diagnostics RCV001584531 SCV005620670 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665303 SCV001462764 uncertain significance Glycine encephalopathy 2020-01-17 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.