ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.1174C>G (p.Leu392Val) (rs145289229)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000188651 SCV000231656 likely benign not specified 2018-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000710181 SCV000242274 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in 0.1774% (501/282492 alleles) in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18546365, 31669236, 20434700, 25462018, 21880868, 25118206, 17846414, 23251356, 29341116)
Invitae RCV000475753 SCV000556247 likely benign Progressive sclerosing poliodystrophy 2020-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515415 SCV000611501 uncertain significance Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 2017-05-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000188651 SCV000614699 benign not specified 2021-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720206 SCV000851083 likely benign Seizures 2018-12-07 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);Intact protein function observed in appropriate functional assay(s);Subpopulation frequency in support of benign classification
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000475753 SCV000887092 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.1174C>G (NP_002684.1:p.Leu392Val) [GRCH38: NC_000015.10:g.89328532G>C] variant in POLG gene is interpretated to be a Likely Benign based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID:20434700 ; 21880868 . This variant meets the following evidence codes reported in the ACMG-guideline. BP2:The variant is observed in trans/cis with a dominant variant. BP4:Computational evidence/predictors indicate no impact on the POLG structure, function, or protein-protein interaction. Based on the evidence criteria codes applied, the variant is suggested to be Likely Benign.
Illumina Clinical Services Laboratory,Illumina RCV001119511 SCV001277922 benign POLG-Related Spectrum Disorders 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710181 SCV001501094 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000710181 SCV001742752 uncertain significance not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000710181 SCV001955732 uncertain significance not provided no assertion criteria provided clinical testing

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