Submissions for variant NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)

gnomAD frequency: 0.01469  dbSNP: rs2229291

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078115	SCV000109953	benign	not specified	2013-08-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000202443	SCV000358102	likely benign	Carnitine palmitoyltransferase II deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000444353	SCV000510981	benign	not provided	2017-02-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000202443	SCV000632583	likely benign	Carnitine palmitoyltransferase II deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578014	SCV000679761	benign	Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, neonatal form	2017-08-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000444353	SCV001143646	benign	not provided	2019-03-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000444353	SCV001943628	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25156649, 23969168, 21277129, 20934285, 15811315, 9600456, 18306170, 21697855, 20981092, 16996287, 27884173, 30470651, 31351739, 25361188)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000444353	SCV002506318	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003456002	SCV004179463	likely benign	Encephalopathy, acute, infection-induced, susceptibility to, 4	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003452999	SCV004179465	likely benign	Carnitine palmitoyl transferase II deficiency, severe infantile form	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453001	SCV004179466	likely benign	Carnitine palmitoyl transferase II deficiency, neonatal form	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453000	SCV004179467	likely benign	Carnitine palmitoyl transferase II deficiency, myopathic form	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000444353	SCV005262585	likely benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000202443	SCV000153652	not provided	Carnitine palmitoyltransferase II deficiency		no assertion provided	literature only
Natera, Inc.	RCV000202443	SCV002090286	benign	Carnitine palmitoyltransferase II deficiency	2019-11-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003982874	SCV004797120	likely benign	CPT2-related disorder	2020-01-18	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).