Submissions for variant NM_000098.3(CPT2):c.1578T>C (p.Gly526=)

gnomAD frequency: 0.00455  dbSNP: rs113493395

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000262532	SCV000358107	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000262532	SCV000632590	benign	Carnitine palmitoyltransferase II deficiency	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000614451	SCV000730871	benign	not specified	2017-02-17	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000614451	SCV002547825	benign	not specified	2022-05-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487317	SCV002803116	likely benign	Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4	2021-08-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001729515	SCV004032950	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CPT2: BS2
Genome-Nilou Lab	RCV003456066	SCV004178268	benign	Encephalopathy, acute, infection-induced, susceptibility to, 4	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449027	SCV004178269	benign	Carnitine palmitoyl transferase II deficiency, severe infantile form	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449029	SCV004178270	benign	Carnitine palmitoyl transferase II deficiency, neonatal form	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003449028	SCV004178271	benign	Carnitine palmitoyl transferase II deficiency, myopathic form	2023-04-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001729515	SCV004564926	benign	not provided	2023-09-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000262532	SCV001454242	benign	Carnitine palmitoyltransferase II deficiency	2020-09-16	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729515	SCV001978349	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729515	SCV001980197	likely benign	not provided		no assertion criteria provided	clinical testing