ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) (rs41549716)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224425 SCV000604903 likely benign not provided 2017-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718004 SCV000848865 benign Seizures 2017-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Other data supporting benign classification,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224425 SCV000281468 likely benign not provided 2014-10-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175036 SCV000226461 likely benign not specified 2014-12-23 criteria provided, single submitter clinical testing
GeneDx RCV000175036 SCV000171100 benign not specified 2013-07-31 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 RCV000175036 SCV000248557 benign not specified 2016-07-29 criteria provided, single submitter clinical testing
Invitae RCV000464026 SCV000556248 benign Progressive sclerosing poliodystrophy 2018-01-11 criteria provided, single submitter clinical testing
OMIM RCV000014463 SCV000034714 uncertain significance Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 2007-09-11 no assertion criteria provided literature only
PreventionGenetics RCV000175036 SCV000309136 likely benign not specified criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine RCV000464026 SCV000887105 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.2492A>G (NP_002684.1:p.Tyr831Cys) [GRCH38: NC_000015.10:g.89321842T>C] variant in POLG gene is interpretated to be a Benign based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID:16929381 ; 16943369 . This variant meets the following evidence codes reported in the ACMG-guideline. BS1:The minor allele frequency of this allele is high for Mitochondrial DNA depletion syndrome 4A (Alpers type). BS2:Observation of the variant in controls is inconsistent with penetrance of Mitochondrial DNA depletion syndrome 4A (Alpers type). BP6:Reputable source(s) without shared data suggest the variant is benign. Based on the evidence criteria codes applied, the variant is suggested to be Benign.

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