Submissions for variant NM_002693.3(POLG):c.975C>G (p.Pro325=)

dbSNP: rs551973680

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000758541	SCV000887264	likely benign	Progressive sclerosing poliodystrophy	2018-10-01	criteria provided, single submitter	clinical testing	The NM_002693.2:c.975C>G (NP_002684.1:p.Pro325=) [GRCH38: NC_000015.10:g.89328991G>C] variant in POLG gene is interpretated to be a Likely Benign based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. BP4:Computational evidence/predictors indicate no impact on the POLG structure, function, or protein-protein interaction. BP7:The variant is silent with non predicted splice impact. Based on the evidence criteria codes applied, the variant is suggested to be Likely Benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000758541	SCV001672397	likely benign	Progressive sclerosing poliodystrophy	2024-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000868575	SCV001899280	benign	not provided	2015-05-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000868575	SCV002063447	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	POLG: BP4, BP7
Athena Diagnostics	RCV004997264	SCV005622464	likely benign	not specified	2024-08-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985823	SCV004786352	likely benign	POLG-related disorder	2019-03-01	no assertion criteria provided	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).