ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.167C>T (p.Pro56Leu)

gnomAD frequency: 0.00001  dbSNP: rs1249954316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092911 SCV001249648 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588719 SCV004294919 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-06-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 872449). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 23430868). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 56 of the CPT1A protein (p.Pro56Leu).

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