Submissions for variant NM_005391.5(PDK3):c.376A>G (p.Met126Val)

gnomAD frequency: 0.00115  dbSNP: rs138321172

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000432171	SCV000521806	likely benign	not specified	2015-12-03	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	RCV000513112	SCV000609374	uncertain significance	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081421	SCV000653801	benign	Charcot-Marie-Tooth disease X-linked dominant 6	2023-12-30	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173742	SCV001336856	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001081421	SCV002029531	benign	Charcot-Marie-Tooth disease X-linked dominant 6	2021-09-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000432171	SCV003702915	benign	not specified	2023-03-14	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000513112	SCV001797509	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000513112	SCV001930657	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912670	SCV004730808	likely benign	PDK3-related disorder	2023-12-11	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).