ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1165G>A (p.Val389Ile)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002634199 SCV003518593 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2022-04-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 389 of the CPT1A protein (p.Val389Ile). This variant is present in population databases (rs771036007, gnomAD 0.03%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004614392 SCV005111836 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.1165G>A (p.V389I) alteration is located in exon 11 (coding exon 10) of the CPT1A gene. This alteration results from a G to A substitution at nucleotide position 1165, causing the valine (V) at amino acid position 389 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.