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.
Invitae RCV001857841 SCV002270542 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2021-10-14 criteria provided, single submitter clinical testing This variant has been observed in at least one individual who was not affected with GABRG2-related conditions (Invitae). 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. 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. ClinVar contains an entry for this variant (Variation ID: 252809). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is not present in population databases (ExAC no frequency). 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.

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