ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1029C>G (p.Phe343Leu)

dbSNP: rs796052511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187533 SCV000241127 uncertain significance not provided 2013-08-14 criteria provided, single submitter clinical testing p.Phe343Leu (TTC>TTG): c.1029 C>G in exon 8 of the GABRG2 gene (NM_000816.3) The Phe343Leu missense change 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. This variant is a conservative substitution of one uncharged, non-polar amino acid for another. It alters a conserved position in the third transmembrane domain of the protein. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Phe343Leu is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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