ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.3286C>G (p.Arg1096Gly) (rs201732356)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188612 SCV000242235 pathogenic not provided 2013-06-19 criteria provided, single submitter clinical testing p.Arg1096Gly (CGT>GGT): c.3286 C>G in exon 21 of the POLG gene (NM_002693.2). A R1096G missense change was identified in the POLG gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Other missense mutations at the same positions (R1096H and R1096C) have been reported previously. R1096H was previously reported in a patient with a clinical diagnosis of Alpers syndrome who had a second POLG mutation on the other chromosome (Horvath et al., 2006), while R1096C is a common POLG mutation that has been identified in multiple patients with autosomal recessive POLG-related disorders (Tang et al., 2011). R1096G represents a non-conservative amino acid substitution as a large, positively charged Arginine reside is replaced by a small, uncharged Glycine residue. Therefore, we interpret R1096G to be a pathogenic mutation. The variant is found in DEPLTN-MITOP panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000188612 SCV000705384 likely pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing

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