ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.122G>A (p.Gly41Glu)

gnomAD frequency: 0.00175  dbSNP: rs146504115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199449 SCV000252123 benign not specified 2015-01-30 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000433749 SCV000511312 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000433749 SCV001024622 benign not provided 2023-12-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530176 SCV004742873 likely benign POLG2-related disorder 2019-09-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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