ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.3287G>T (p.Arg1096Leu) (rs368435864)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188616 SCV000242239 pathogenic not provided 2017-01-17 criteria provided, single submitter clinical testing p.Arg1096Leu (CGT>CTT): c.3287 G>T in exon 21 of the POLG gene (NM_002693.2). The R1096L mutation 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 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R1096L mutation 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. Another mutation at this position (R1096H) has also been reported as pathogenic in a patient with a clinical diagnosis of Alpers syndrome who had a second POLG mutation on the other allele (Horvath et al., 2006). Therefore, we interpret R1096L to be a pathogenic mutation. The variant is found in EPILEPSY panel(s).

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