ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)

gnomAD frequency: 0.00001  dbSNP: rs756839691
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667933 SCV000792460 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV001564672 SCV001787871 likely pathogenic not provided 2019-10-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28801073, 12673791, 15363638, 31235404)
Invitae RCV001829845 SCV003444192 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-08-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 161 of the CPT2 protein (p.Arg161Trp). This variant is present in population databases (rs756839691, gnomAD 0.002%). This missense change has been observed in individual(s) with adult-onset carnitine palmitoyltransferase II deficiency (PMID: 12673791). ClinVar contains an entry for this variant (Variation ID: 552637). 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. This variant disrupts the p.Arg161 amino acid residue in CPT2. Other variant(s) that disrupt this residue have been observed in individuals with CPT2-related conditions (PMID: 31770251), which suggests that this may be a clinically significant amino acid residue. 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.
Baylor Genetics RCV003472091 SCV004211066 pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-07-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829845 SCV002090263 likely pathogenic Carnitine palmitoyltransferase II deficiency 2020-09-03 no assertion criteria provided clinical testing

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