ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.948G>A (p.Lys316=) (rs61756401)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118023 SCV000171131 benign not specified 2013-04-04 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118023 SCV000203328 benign not specified 2015-06-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000433050 SCV000511544 likely benign not provided 2017-01-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118023 SCV000540099 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: High allele frequency
Invitae RCV000459441 SCV000556239 benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716124 SCV000846959 benign Seizures 2016-06-23 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000459441 SCV000887091 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.948G>A (NP_002684.1:p.Lys316=) [GRCH38: NC_000015.10:g.89329018C>T] variant in POLG gene is interpretated to be a Benign based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. BS1:The minor allele frequency of this allele is high for Mitochondrial DNA depletion syndrome 4A (Alpers type). BS2:Observation of the variant in controls is inconsistent with penetrance of Mitochondrial DNA depletion syndrome 4A (Alpers type). Based on the evidence criteria codes applied, the variant is suggested to be Benign.
Athena Diagnostics Inc RCV000433050 SCV001145171 benign not provided 2019-06-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001121510 SCV001280135 likely benign POLG-Related Spectrum Disorders 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory,University of Chicago RCV000118023 SCV000152341 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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