ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)

gnomAD frequency: 0.00002  dbSNP: rs764443409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600810 SCV000729470 likely benign not specified 2018-02-06 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 RCV000873669 SCV001015705 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873669 SCV002092955 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-08-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003935713 SCV004748032 likely benign CPT1A-related disorder 2019-07-02 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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