ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.1126C>T (p.Leu376=) (rs116165908)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127558 SCV000171135 benign not specified 2013-01-03 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.
PreventionGenetics,PreventionGenetics RCV000127558 SCV000309127 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127558 SCV000337700 benign not specified 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV000473863 SCV000556241 benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000127558 SCV000614698 benign not specified 2017-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720326 SCV000851203 benign Seizures 2016-09-01 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000473863 SCV000887266 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.1126C>T (NP_002684.1:p.Leu376=) [GRCH38: NC_000015.10:g.89328729G>A] variant in POLG gene is interpretated to be a Likely Benign based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. BP4:Computational evidence/predictors indicate no impact on the POLG structure, function, or protein-protein interaction. BP7:The variant is silent with non predicted splice impact. BS1:The minor allele frequency of this allele is high for 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 Likely Benign.

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