ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.351dup (p.Ala118fs)

dbSNP: rs1554097873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599058 SCV000710068 pathogenic not provided 2022-11-25 criteria provided, single submitter clinical testing Identified in a patient and his parent, each with early childhood febrile seizures, in published literature (Della Mina et al., 2015); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24848745)
Labcorp Genetics (formerly Invitae), Labcorp RCV001854122 SCV002246015 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2021-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ala118Cysfs*6) in the GABRG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with febrile seizures (PMID: 24848745). ClinVar contains an entry for this variant (Variation ID: 503773).
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV004546529 SCV005040955 pathogenic Seizure 2024-03-04 criteria provided, single submitter clinical testing

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