ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe)

dbSNP: rs74930063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055060 SCV001219425 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-03-17 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is expected to disrupt GABRG2 protein function. ClinVar contains an entry for this variant (Variation ID: 850807). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is present in population databases (rs74930063, gnomAD 0.007%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 135 of the GABRG2 protein (p.Leu135Phe).
CeGaT Center for Human Genetics Tuebingen RCV001091691 SCV001247878 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing

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