ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2982-30G>A

gnomAD frequency: 0.00098  dbSNP: rs76339822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758559 SCV000887298 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.2982-30G>A (NP_002684.1:p.=) [GRCH38: NC_000015.10:g.89319380C>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. Based on the evidence criteria codes applied, the variant is suggested to be Benign.
Breakthrough Genomics, Breakthrough Genomics RCV004716618 SCV005294872 benign not provided criteria provided, single submitter not provided

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