ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.122C>T (p.Pro41Leu)

gnomAD frequency: 0.00001  dbSNP: rs760976212
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566027 SCV001789491 uncertain significance not provided 2020-09-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27312022, 22899091)
Labcorp Genetics (formerly Invitae), Labcorp RCV001827488 SCV003523296 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-05-04 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 41 of the CPT2 protein (p.Pro41Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (PMID: 22899091). ClinVar contains an entry for this variant (Variation ID: 1200879). 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 RCV003451817 SCV004179259 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451814 SCV004179260 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451816 SCV004179261 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451815 SCV004179262 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827488 SCV002090255 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-11-12 no assertion criteria provided clinical testing

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