Submissions for variant NM_002693.3(POLG):c.3258G>A (p.Ser1086=)

gnomAD frequency: 0.00001  dbSNP: rs763312940

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000732872	SCV000860868	uncertain significance	not provided	2018-04-17	criteria provided, single submitter	clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	RCV000758535	SCV000887257	likely benign	Progressive sclerosing poliodystrophy	2018-10-01	criteria provided, single submitter	clinical testing	The NM_002693.2:c.3258G>A (NP_002684.1:p.Ser1086=) [GRCH38: NC_000015.10:g.89318946C>T] 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	RCV000758535	SCV001062244	likely benign	Progressive sclerosing poliodystrophy	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000732872	SCV001862962	likely benign	not provided	2019-10-13	criteria provided, single submitter	clinical testing