ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.549-3T>G (rs750459631)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655993 SCV000588269 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
CeGaT Praxis fuer Humangenetik Tuebingen RCV000187524 SCV000493387 likely pathogenic not provided 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000187524 SCV000241118 uncertain significance not provided 2016-09-09 criteria provided, single submitter clinical testing The c.549-3 T>G variant in the GABRG2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. Several in-silico splice prediction models predict that c.549-3 T>G damages the natural acceptor site of intron 4 and leads to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.549-3 T>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.549-3 T>G as a variant of uncertain significance.

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