ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.1454G>T (p.Arg485Leu) (rs587780341)

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Total submissions: 3
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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 uncertain significance Epilepsy, childhood absence 2; Familial febrile seizures 8 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 437 of the GABRG2 protein (p.Arg437Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a GABRG2-related disease. ClinVar contains an entry for this variant (Variation ID: 129126). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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 RCV000117112 SCV001738322 uncertain significance not provided 2020-11-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016) In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect Has not been previously published as pathogenic or benign to our knowledge

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