ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)

gnomAD frequency: 0.00001  dbSNP: rs80356783
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000055852 SCV002181176 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2021-12-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 343 of the CPT1A protein (p.Phe343Val). This variant is present in population databases (rs80356783, gnomAD 0.009%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1 deficiency (PMID: 15110323). ClinVar contains an entry for this variant (Variation ID: 65639). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV000055852 SCV004211021 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2022-04-09 criteria provided, single submitter clinical testing
GeneReviews RCV000055852 SCV000086848 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only

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.