ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys)

gnomAD frequency: 0.00006  dbSNP: rs746626989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322423 SCV001513293 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 215 of the GABRG2 protein (p.Arg215Cys). 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GABRG2 protein function. ClinVar contains an entry for this variant (Variation ID: 1022508). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is present in population databases (rs746626989, gnomAD 0.04%).
GeneDx RCV002307726 SCV002601460 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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