ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1070G>A (p.Arg357Gln)

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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 RCV003067293 SCV003453976 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-04-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 357 of the CPT1A protein (p.Arg357Gln). This variant is present in population databases (rs776195624, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant disrupts the p.Arg357 amino acid residue in CPT1A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11441142). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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