ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.453+9G>A

gnomAD frequency: 0.00070  dbSNP: rs183694834
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436427 SCV000512759 likely benign not specified 2016-06-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000877069 SCV001019741 benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957905 SCV004776273 likely benign CPT1A-related disorder 2021-04-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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