ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) (rs201508063)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517111 SCV000613021 uncertain significance not specified 2016-08-19 criteria provided, single submitter clinical testing
Invitae RCV000635370 SCV000756779 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-10-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 480 of the CPT2 protein (p.Gly480Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs201508063, ExAC 0.03%). This variant has been observed in the heterozygous state in an individual affected by CPT2 related conditions; however, a second variant was not identified in this individual (PMID: 16996287). ClinVar contains an entry for this variant (Variation ID: 447218). 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.
Counsyl RCV000669097 SCV000793802 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2017-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763960 SCV000894911 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
Illumina Clinical Services Laboratory,Illumina RCV000635370 SCV001258871 uncertain significance Carnitine palmitoyltransferase II deficiency 2017-09-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000635370 SCV001454241 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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