Submissions for variant NM_000098.3(CPT2):c.1939A>G (p.Met647Val)

gnomAD frequency: 0.15237  dbSNP: rs1799822

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078120	SCV000109958	benign	not specified	2015-08-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000078120	SCV000168035	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	RCV000202533	SCV000358108	benign	Carnitine palmitoyltransferase II deficiency	2018-01-13	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.
Phosphorus, Inc.	RCV000578093	SCV000679762	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
Mendelics	RCV000986323	SCV001135293	benign	Carnitine palmitoyl transferase II deficiency, severe infantile form	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000202533	SCV001717866	benign	Carnitine palmitoyltransferase II deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000986323	SCV001750235	benign	Carnitine palmitoyl transferase II deficiency, severe infantile form	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533573	SCV001750236	benign	Carnitine palmitoyl transferase II deficiency, neonatal form	2021-07-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811357	SCV002047698	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
GeneReviews	RCV000202533	SCV000153654	not provided	Carnitine palmitoyltransferase II deficiency		no assertion provided	literature only
Natera, Inc.	RCV000202533	SCV001454250	benign	Carnitine palmitoyltransferase II deficiency	2020-09-16	no assertion criteria provided	clinical testing