ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) (rs369544574)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188627 SCV000242250 likely benign not specified 2018-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000188627 SCV000248559 uncertain significance not specified 2014-08-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000188627 SCV000341678 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing
Invitae RCV000633564 SCV000754810 benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712805 SCV000843338 benign not provided 2018-05-09 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000633564 SCV000887302 uncertain significance Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.3559C>T (NP_002684.1:p.Arg1187Trp) [GRCH38: NC_000015.10:g.89317460G>A] variant in POLG gene is interpretated to be a Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID:16857757 . This variant meets the following evidence codes reported in the ACMG-guideline. PM2:This variant is absent in key population databases. PM3:Detected in trans with a pathogenic variant for Mitochondrial DNA depletion syndrome 4A (Alpers type) which is a recessive disorder. PP2:This is a missense variant in POLG with a low rate of benign and high rate of pathogenic missense variations. PP4:Patient's phenotype or family history is highly specific for POLG. Based on the evidence criteria codes applied, the variant is suggested to be Likely Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000712805 SCV001501092 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing

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