ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys)

gnomAD frequency: 0.00025  dbSNP: rs151003641
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656840 SCV000238781 uncertain significance not provided 2020-05-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000656840 SCV000706183 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000635369 SCV000756778 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 350 of the CPT2 protein (p.Arg350Cys). This variant is present in population databases (rs151003641, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 203662). 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 CPT2 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.
CeGaT Center for Human Genetics Tuebingen RCV000656840 SCV001249308 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000635369 SCV001256743 uncertain significance Carnitine palmitoyltransferase II deficiency 2017-05-23 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002516964 SCV003647116 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.1048C>T (p.R350C) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration results from a C to T substitution at nucleotide position 1048, causing the arginine (R) at amino acid position 350 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000656840 SCV003829980 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454484 SCV004179455 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454481 SCV004179456 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454483 SCV004179457 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454482 SCV004179458 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000656840 SCV005186700 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000656840 SCV005407883 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing PP3
Natera, Inc. RCV000635369 SCV001454236 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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.