ClinVar Miner

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

gnomAD frequency: 0.00006  dbSNP: rs199996641
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527595 SCV000632594 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 560 of the CPT2 protein (p.Arg560Gln). This variant is present in population databases (rs199996641, gnomAD 0.01%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase deficiency (PMID: 16996287). ClinVar contains an entry for this variant (Variation ID: 460426). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV000672447 SCV000797553 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2018-02-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763963 SCV000894914 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 2024-03-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144325 SCV003829961 uncertain significance not provided 2021-06-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456088 SCV004178283 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000672447 SCV004178284 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449551 SCV004178285 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449550 SCV004178286 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 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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