ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu)

dbSNP: rs1581453572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817495 SCV000958059 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-08-11 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: 660327). This missense change has been observed in individual(s) with clinical features of GABRG2-related conditions (PMID: 33004838, 36979350). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 325 of the GABRG2 protein (p.Ser325Leu).
CeGaT Center for Human Genetics Tuebingen RCV003884741 SCV004703333 likely pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing GABRG2: PM2, PS4:Moderate, PM6:Supporting, PP2, PP3, PS3:Supporting

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