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

dbSNP: rs727503941

Total submissions: 5

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