ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)

gnomAD frequency: 0.00001  dbSNP: rs80356780
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723829 SCV000226603 pathogenic not provided 2014-07-14 criteria provided, single submitter clinical testing
Counsyl RCV000009638 SCV000486325 likely pathogenic Carnitine palmitoyl transferase 1A deficiency 2016-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000009638 SCV004270238 pathogenic Carnitine palmitoyl transferase 1A deficiency 2024-06-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 710 of the CPT1A protein (p.Gly710Glu). This variant is present in population databases (rs80356780, gnomAD 0.006%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 11350183). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 9071). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects CPT1A function (PMID: 11350182). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009638 SCV000029856 pathogenic Carnitine palmitoyl transferase 1A deficiency 2001-05-01 no assertion criteria provided literature only
GeneReviews RCV000009638 SCV000086866 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.