ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1620A>G (p.Gln540=)

gnomAD frequency: 0.00003  dbSNP: rs958701683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601178 SCV000717388 likely benign not specified 2017-03-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001412636 SCV001614728 likely benign Progressive sclerosing poliodystrophy 2023-10-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985801 SCV004735207 likely benign POLG-related disorder 2021-07-09 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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