Submissions for variant NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)

gnomAD frequency: 0.00501  dbSNP: rs140958507

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000185825	SCV000238774	benign	not specified	2016-11-03	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000538266	SCV000603219	benign	Carnitine palmitoyl transferase 1A deficiency	2021-08-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000538266	SCV000638102	benign	Carnitine palmitoyl transferase 1A deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000538266	SCV002801745	likely benign	Carnitine palmitoyl transferase 1A deficiency	2021-12-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003398923	SCV004137112	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CPT1A: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003398923	SCV005321463	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000538266	SCV001460476	benign	Carnitine palmitoyl transferase 1A deficiency	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977490	SCV004794137	benign	CPT1A-related disorder	2020-09-14	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).