ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.823C>T (p.Arg275Ter) (rs1057517803)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414708 SCV000490736 pathogenic not provided 2018-02-14 criteria provided, single submitter clinical testing The R275X nonsense variant in the POLG gene has been reported previously in an individual with chronic progressive external ophthalmoplegia (CPEO) and intellectual disability, who also harbored a second POLG pathogenic variant on the opposite allele (Blok et al., 2009). The proband's sister and two daughters carried only the R275X variant and had less severe symptoms including CPEO, fatigue, and fatigue and muscle pain, respectively (Blok et al., 2009). The authors concluded that R275X is most likely a recessive pathogenic variant, however, they could not rule out that heterozygous carriers of the R275X variant may manifest symptoms. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret R275X to be a pathogenic variant.

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