ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)

dbSNP: rs727503941
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723908 SCV000202771 uncertain significance not provided 2014-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000723908 SCV000241137 likely benign not provided 2019-08-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30660939)
Ambry Genetics RCV000624390 SCV000742820 likely benign Inborn genetic diseases 2019-06-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001223368 SCV001395513 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-11-28 criteria provided, single submitter clinical testing This variant, c.1113_1115del, results in the deletion of 1 amino acid(s) of the GABRG2 protein (p.Lys374del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs749611954, gnomAD 0.01%). This variant has been observed in individual(s) with epilepsy (PMID: 30660939). ClinVar contains an entry for this variant (Variation ID: 167117). 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.
CeGaT Center for Human Genetics Tuebingen RCV000723908 SCV004698764 uncertain significance not provided 2024-02-01 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.