ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3483-41A>C

dbSNP: rs2307436
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen RCV001759446 SCV001994840 benign Mitochondrial disease 2021-05-06 reviewed by expert panel curation The c.3483-41 A>C variant in POLG is present in population databases at the following frequencies: 1000 genomes at 1.7%; gnomad at 1.4% with 246 homozygotes; ExAC 1.3% with 104 homozygotes (BA1; observed > 1% frequency and BS2). In summary, there is sufficient evidence to characterize this variant as benign for primary mitochondrial disease inherited in a autosomal recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BA1, BS2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758551 SCV000887283 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.3483-41A>C (NP_002684.1:p.=) [GRCH38: NC_000015.10:g.89317577T>G] 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. BA1:Minor allele frequency is too high for the 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.
GeneDx RCV001712745 SCV001944609 benign not provided 2019-07-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712745 SCV005294868 benign not provided criteria provided, single submitter not provided

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