Submissions for variant NM_002693.3(POLG):c.186A>G (p.Leu62=)

gnomAD frequency: 0.00016  dbSNP: rs745310138

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726830	SCV000529663	likely benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726830	SCV000703404	uncertain significance	not provided	2016-11-02	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000758358	SCV000887026	likely benign	Progressive sclerosing poliodystrophy	2018-10-01	criteria provided, single submitter	clinical testing	The NM_002693.2:c.186A>G (NP_002684.1:p.Leu62=) [GRCH38: NC_000015.10:g.89333569T>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	RCV000758358	SCV001011465	likely benign	Progressive sclerosing poliodystrophy	2024-01-26	criteria provided, single submitter	clinical testing