ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.917C>T (p.Ser306Phe)

dbSNP: rs2113599212
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002047455 SCV002116216 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 306 of the GABRG2 protein (p.Ser306Phe). 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. This missense change has been observed in individual(s) with clinical features of GABRG2-related conditions (PMID: 31004928). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).

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