ClinVar Miner

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

gnomAD frequency: 0.00501  dbSNP: rs140958507
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Total submissions: 7
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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
Invitae 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
PreventionGenetics, part of Exact Sciences RCV003977490 SCV004794137 benign CPT1A-related disorder 2020-09-14 criteria provided, single submitter 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).
Natera, Inc. RCV000538266 SCV001460476 benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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