ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.188G>A (p.Arg63Lys)

gnomAD frequency: 0.00002  dbSNP: rs748182542
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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 RCV001247003 SCV001420400 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-09-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 63 of the CPT2 protein (p.Arg63Lys). This variant is present in population databases (rs748182542, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 971260). 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 not 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.
Revvity Omics, Revvity RCV003145489 SCV003829962 uncertain significance not provided 2021-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003456207 SCV004179279 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449793 SCV004179280 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449795 SCV004179281 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449794 SCV004179282 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247003 SCV002090259 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-01-24 no assertion criteria provided clinical testing

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