ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) (rs199996641)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527595 SCV000632594 uncertain significance Carnitine palmitoyltransferase II deficiency 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 560 of the CPT2 protein (p.Arg560Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs199996641, ExAC 0.009%). This variant has been reported as heterozygous in an individual affected with car­ni­tine pal­mi­to­yl­trans­fer­ase deficiency (PMID: 16996287). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on CPT2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000672447 SCV000797553 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2018-02-05 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763963 SCV000894914 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile; Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced; Carnitine palmitoyltransferase II deficiency, lethal neonatal; Encephalopathy, acute, infection-induced, 4, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000527595 SCV001454243 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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