ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.740C>T (p.Pro247Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003751028 SCV004375679 pathogenic Carnitine palmitoyl transferase 1A deficiency 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 247 of the CPT1A protein (p.Pro247Leu). This variant is present in population databases (rs763570668, gnomAD 0.01%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 33845545, 35360862). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CPT1A protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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