ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)

dbSNP: rs1045493304
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760614 SCV000890506 likely pathogenic not provided 2021-02-04 criteria provided, single submitter clinical testing Nonsense 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001855929 SCV002180998 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 620250). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg224*) 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).
Ambry Genetics RCV002360872 SCV002666739 pathogenic Inborn genetic diseases 2018-05-30 criteria provided, single submitter clinical testing The p.R224* pathogenic mutation (also known as c.670C>T), located in coding exon 6 of the GABRG2 gene, results from a C to T substitution at nucleotide position 670. This changes the amino acid from an arginine to a stop codon within coding exon 6. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468604 SCV002764717 likely pathogenic Febrile seizures, familial, 8 2021-09-06 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002468604 SCV004027745 pathogenic Febrile seizures, familial, 8 2023-07-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2_SUP

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