Submissions for variant NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)

dbSNP: rs41550117

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000153756	SCV000248554	benign	not specified	2013-10-30	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000153756	SCV000257925	likely benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000714693	SCV000845415	benign	POLG-Related Spectrum Disorders	2018-08-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312681	SCV000846208	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000758545	SCV000887271	benign	Progressive sclerosing poliodystrophy	2018-10-01	criteria provided, single submitter	clinical testing	The NM_002693.2:c.156_158dup (NP_002684.1:p.Gln53_Gln54insGln) [GRCH38: NC_000015.10:g.89333627_89333629dup] 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). BP4:Computational evidence/predictors indicate no impact on the POLG structure, function, or protein-protein interaction. Based on the evidence criteria codes applied, the variant is suggested to be Benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000758545	SCV001717997	benign	Progressive sclerosing poliodystrophy	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000676330	SCV001832966	benign	not provided	2020-06-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23066759, 29190809)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000676330	SCV002058045	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847785	SCV002105551	benign	Hereditary spastic paraplegia	2021-12-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492575	SCV002795443	likely benign	Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b	2021-08-23	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV003993835	SCV004812617	benign	Recessive mitochondrial ataxia syndrome	2023-06-06	criteria provided, single submitter	clinical testing	Allele frequency in gnomAD v3.1 is >5% in the African/African American population dataset.
Eurofins Ntd Llc (ga)	RCV000153756	SCV000203330	benign	not specified	2014-02-19	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676330	SCV000802100	benign	not provided	2016-02-22	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000676330	SCV001799438	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000153756	SCV001806793	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000153756	SCV001930110	benign	not specified		no assertion criteria provided	clinical testing