ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.928A>G (p.Arg310Gly) (rs796052520)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187546 SCV000241140 uncertain significance not provided 2014-11-18 criteria provided, single submitter clinical testing p.Arg270Gly (AGA>GGA): c.808 A>G in exon 7 of the GABRG2 gene (NM_000816.3) The R270G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It 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. The R270G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is highly conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, other missense mutations in nearby residues have not been reported. Therefore, based on the currently available information, it is unclear whether the R270G variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Ambry Genetics RCV000623815 SCV000743077 likely pathogenic Inborn genetic diseases 2017-11-14 criteria provided, single submitter clinical testing

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