Submissions for variant NM_002693.3(POLG):c.3105-11T>C

gnomAD frequency: 0.32855  dbSNP: rs2302084

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000153754	SCV000171108	benign	not specified	2011-07-01	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.
Eurofins Ntd Llc (ga)	RCV000153754	SCV000203326	benign	not specified	2014-03-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153754	SCV000309139	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284559	SCV000394270	likely benign	POLG-Related Spectrum Disorders	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281377	SCV000483524	benign	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000758546	SCV000887274	benign	Progressive sclerosing poliodystrophy	2018-10-01	criteria provided, single submitter	clinical testing	The NM_002693.2:c.3105-11T>C (NP_002684.1:p.=) [GRCH38: NC_000015.10:g.89319110A>G] 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. BA1:Minor allele frequency is too high for the Mitochondrial DNA depletion syndrome 4A (Alpers type). 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000758546	SCV001729741	benign	Progressive sclerosing poliodystrophy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000758546	SCV002031669	benign	Progressive sclerosing poliodystrophy	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789186	SCV002031670	benign	Mitochondrial DNA depletion syndrome 4b	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789183	SCV002031671	benign	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789184	SCV002031672	benign	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789185	SCV002031673	benign	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	2021-10-25	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000153754	SCV005087611	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 52% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 48. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004704984	SCV005213936	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000153754	SCV001807740	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153754	SCV001972323	benign	not specified		no assertion criteria provided	clinical testing