ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1783C>T (p.Arg595Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003588498 SCV004294917 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2023-09-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 595 of the CPT1A protein (p.Arg595Trp). This variant is present in population databases (rs576663980, gnomAD 0.0009%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase I (CPT1) deficiency (PMID: 23430932). 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. 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.

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