ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.107+6A>G

dbSNP: rs868452487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238893 SCV000297408 uncertain significance not specified 2015-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000238893 SCV000518418 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857841 SCV002270542 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2021-10-14 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the GABRG2 gene. It does not directly change the encoded amino acid sequence of the GABRG2 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant has been observed in at least one individual who was not affected with GABRG2-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 252809). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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