ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu)

dbSNP: rs587780341
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117112 SCV000151272 uncertain significance not provided 2014-03-24 criteria provided, single submitter clinical testing
Invitae RCV000809562 SCV000949716 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GABRG2 protein function. ClinVar contains an entry for this variant (Variation ID: 129126). This missense change has been observed in individuals with clinical features of GABRG2-related conditions (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 437 of the GABRG2 protein (p.Arg437Leu).
GeneDx RCV000117112 SCV001738322 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously reported as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004528816 SCV004104949 uncertain significance GABRG2-related disorder 2023-07-03 criteria provided, single submitter clinical testing The GABRG2 c.1310G>T variant is predicted to result in the amino acid substitution p.Arg437Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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