ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.889G>A (p.Gly297Arg) (rs1554098235)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379155 SCV001576904 likely pathogenic Epilepsy, childhood absence 2; Familial febrile seizures 8 2020-07-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 257 of the GABRG2 protein (p.Gly257Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant also falls at the last nucleotide of exon 6 of the GABRG2 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of GABRG2-related conditions (PMID: 25726841, Invitae). ClinVar contains an entry for this variant (Variation ID: 433102). This variant has been reported to affect GABRG2 protein function (PMID: 25726841). Nucleotide substitutions within 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 disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655994 SCV000588270 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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