ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2735-15C>T

gnomAD frequency: 0.00390  dbSNP: rs41544115
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127527 SCV000171104 benign not specified 2013-09-09 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758399 SCV000887081 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.2735-15C>T (NP_002684.1:p.=) [GRCH38: NC_000015.10:g.89321027G>A] 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. Based on the evidence criteria codes applied, the variant is suggested to be Benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000758399 SCV001728974 benign Progressive sclerosing poliodystrophy 2024-01-29 criteria provided, single submitter clinical testing

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