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

dbSNP: rs551973680

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127556	SCV000171133	benign	not specified	2013-09-19	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.
Eurofins Ntd Llc (ga)	RCV000727457	SCV000708707	uncertain significance	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312591	SCV000846960	likely benign	Inborn genetic diseases	2016-06-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084800	SCV001006765	likely benign	Progressive sclerosing poliodystrophy	2024-01-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000727457	SCV001145173	likely benign	not provided	2019-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727457	SCV001149572	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	POLG: BP4, BP7