Submissions for variant NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)

gnomAD frequency: 0.46024  dbSNP: rs1799821

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078116	SCV000109954	benign	not specified	2015-08-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000078116	SCV000168034	benign	not specified	2013-05-29	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.
Illumina Laboratory Services, Illumina	RCV000202483	SCV000358103	benign	Carnitine palmitoyltransferase II deficiency	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000711317	SCV000841658	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711317	SCV001156717	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000202483	SCV001733020	benign	Carnitine palmitoyltransferase II deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533571	SCV001750233	benign	Carnitine palmitoyl transferase II deficiency, severe infantile form	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533572	SCV001750234	benign	Carnitine palmitoyl transferase II deficiency, neonatal form	2021-07-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711317	SCV005284617	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000202483	SCV000153653	not provided	Carnitine palmitoyltransferase II deficiency		no assertion provided	literature only
Natera, Inc.	RCV000202483	SCV001454237	benign	Carnitine palmitoyltransferase II deficiency	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000078116	SCV001744869	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000078116	SCV001958359	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003974955	SCV004793413	benign	CPT2-related disorder	2019-06-06	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).