ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.315G>A (p.Glu105=)

gnomAD frequency: 0.00036  dbSNP: rs142121495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426439 SCV000514231 likely benign not specified 2017-05-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000922930 SCV001068379 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848745 SCV002104901 uncertain significance Hereditary spastic paraplegia 2020-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000922930 SCV004138819 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing POLG2: BP4, BP7

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