ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.107+3A>G (rs796052517)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187542 SCV000241136 uncertain significance not provided 2014-06-24 criteria provided, single submitter clinical testing c.107+3 A>G: IVS1+3 A>G in intron 1 of the GABRG2 gene (NM_000816.3) The c.107+3 A>G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.107+3 A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.107+3 A>G damages the natural splice donor site in intron 1, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).

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