ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) (rs373638740)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674663 SCV000800042 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2018-05-18 criteria provided, single submitter clinical testing
Invitae RCV000796802 SCV000936330 uncertain significance Carnitine palmitoyltransferase II deficiency 2019-11-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 231 of the CPT2 protein (p.Arg231Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs373638740, ExAC 0.01%). This variant has been observed in individuals affected with CPT2-related conditions (PMID: 16996287, 24398345, 24602495). ClinVar contains an entry for this variant (Variation ID: 203661). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092683 SCV001249307 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001092683 SCV001715288 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000796802 SCV001454230 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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