ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1559C>T (p.Pro520Leu)

gnomAD frequency: 0.00003  dbSNP: rs776754218
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333706 SCV000341714 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001096808 SCV001253045 uncertain significance Carnitine palmitoyltransferase II deficiency 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001096808 SCV003517671 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 520 of the CPT2 protein (p.Pro520Leu). This variant is present in population databases (rs776754218, gnomAD 0.04%). 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: 287806). 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 not 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.
Genome-Nilou Lab RCV003454818 SCV004178266 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456047 SCV004180569 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454817 SCV004180570 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454819 SCV004180571 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000333706 SCV004227847 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing PM2

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