ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1489G>A (p.Gly497Ser)

gnomAD frequency: 0.00002  dbSNP: rs1479961277
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001210808 SCV001382316 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-03-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 497 of the CPT2 protein (p.Gly497Ser). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with CPT2 deficiency (PMID: 23911907). ClinVar contains an entry for this variant (Variation ID: 941093). 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 expected to disrupt CPT2 protein function. 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.
MGZ Medical Genetics Center RCV002290638 SCV002581400 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2022-03-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449663 SCV004179552 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449661 SCV004179554 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449662 SCV004179555 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290638 SCV004179556 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001210808 SCV002090307 uncertain significance Carnitine palmitoyltransferase II deficiency 2021-04-01 no assertion criteria provided clinical testing

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