ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)

gnomAD frequency: 0.00002  dbSNP: rs201936720
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000996597 SCV000252126 benign not provided 2018-11-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29625556, 22155748, 21555342, 27535533, 26123486, 31664448)
Illumina Laboratory Services, Illumina RCV000033246 SCV000405425 likely benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000996597 SCV001151395 benign not provided 2024-07-01 criteria provided, single submitter clinical testing POLG2: BS1, BS2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000033246 SCV001435222 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 criteria provided, single submitter research The heterozygous p.Arg369Gly variant in POLG2 has been identified in 2 individuals with mitochondrial disease (PMID: 21555342, 22155748), and has been identified in >2% of South Asian chromosomes and 12 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the p.Arg369Gly variant may slightly impact protein function (PMID: 21555342, 22155748). However, these types of assays may not accurately represent biological function. In summary, this variant meets criteria to be classified as benign for autosomal dominant mitochondrial disease.
Invitae RCV000996597 SCV001729806 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847629 SCV002104894 likely benign Hereditary spastic paraplegia 2021-09-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532480 SCV004755512 benign POLG2-related disorder 2019-07-19 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000033246 SCV000057102 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 2011-08-01 no assertion criteria provided literature only

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