ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)

gnomAD frequency: 0.00020  dbSNP: rs201508063
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517111 SCV000613021 uncertain significance not specified 2016-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000635370 SCV000756779 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 480 of the CPT2 protein (p.Gly480Arg). This variant is present in population databases (rs201508063, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of CPT2-related conditions (PMID: 16996287). ClinVar contains an entry for this variant (Variation ID: 447218). 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.
Counsyl RCV000669097 SCV000793802 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763960 SCV000894911 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2022-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000635370 SCV001258871 uncertain significance Carnitine palmitoyltransferase II deficiency 2017-09-19 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.
Genome-Nilou Lab RCV003456084 SCV004179544 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000669097 SCV004179545 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449475 SCV004179546 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449474 SCV004179547 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488648 SCV004235497 uncertain significance not provided 2023-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023502 SCV004849781 uncertain significance Inborn genetic diseases 2023-12-26 criteria provided, single submitter clinical testing The c.1438G>A (p.G480R) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration results from a G to A substitution at nucleotide position 1438, causing the glycine (G) at amino acid position 480 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003488648 SCV005407894 uncertain significance not provided 2023-09-28 criteria provided, single submitter clinical testing PP3
Natera, Inc. RCV000635370 SCV001454241 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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