ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1250+188A>G

gnomAD frequency: 0.57671  dbSNP: rs3176174
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Total submissions: 3
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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 RCV001526413 SCV001736751 benign Mitochondrial disease 2021-05-07 reviewed by expert panel curation The c.1250+188A>G variant in POLG has been reported with an allele frequency in the population of 58% in gnomAD (BA1). In summary, this variant meets criteria to be classified as benign for primary mitochondrial disease inherited in a recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BA1.
GeneDx RCV000826726 SCV000968321 benign not provided 2018-06-14 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.
Breakthrough Genomics, Breakthrough Genomics RCV000826726 SCV005294890 benign not provided criteria provided, single submitter not provided

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