ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.587C>T (p.Pro196Leu)

gnomAD frequency: 0.00001  dbSNP: rs758823353
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178038 SCV000230024 uncertain significance not provided 2014-12-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001345861 SCV001540008 uncertain significance Carnitine palmitoyltransferase II deficiency 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 196 of the CPT2 protein (p.Pro196Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with carnitine palmitoyltransferase II deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 197105). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV000178038 SCV001993927 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003456006 SCV004179358 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454459 SCV004179359 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454461 SCV004179360 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454460 SCV004179361 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing

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