Submissions for variant NM_002693.3(POLG):c.2487C>T (p.Pro829=)

gnomAD frequency: 0.00004  dbSNP: rs147563527

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726206	SCV000342887	uncertain significance	not provided	2016-06-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000291085	SCV000514239	benign	not specified	2015-09-18	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726206	SCV000892142	uncertain significance	not provided	2018-08-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087373	SCV001008587	likely benign	Progressive sclerosing poliodystrophy	2024-01-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985768	SCV004779832	likely benign	POLG-related disorder	2021-07-12	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).