ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.457C>G (p.Leu153Val)

gnomAD frequency: 0.00023  dbSNP: rs149446102
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705130 SCV000252119 likely benign not provided 2019-02-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21555342, 24985751)
Illumina Laboratory Services, Illumina RCV001126454 SCV001285650 benign Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847879 SCV002104903 likely benign Hereditary spastic paraplegia 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001705130 SCV002406380 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530175 SCV004733940 likely benign POLG2-related disorder 2023-02-16 criteria provided, single submitter 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).
Breakthrough Genomics, Breakthrough Genomics RCV001705130 SCV005211251 likely benign not provided criteria provided, single submitter not provided

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