ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.150G>A (p.Gln50=)

gnomAD frequency: 0.00005  dbSNP: rs766501874
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000991337 SCV000515358 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000991337 SCV000614704 likely benign not provided 2018-12-03 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758500 SCV000887217 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.150G>A (NP_002684.1:p.Gln50=) [GRCH38: NC_000015.10:g.89333605C>T] variant in POLG gene is interpretated to be a Benign based on ACMG guidelines (PMID: 25741868). 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). 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. Based on the evidence criteria codes applied, the variant is suggested to be Benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000758500 SCV001603781 likely benign Progressive sclerosing poliodystrophy 2023-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392961 SCV002705000 likely benign Inborn genetic diseases 2018-08-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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