ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1492C>T (p.Arg498Cys)

gnomAD frequency: 0.00002  dbSNP: rs374308679
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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 RCV001315543 SCV001506121 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 498 of the CPT2 protein (p.Arg498Cys). This variant is present in population databases (rs374308679, gnomAD 0.004%). 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: 1016526). 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.
Ambry Genetics RCV002543672 SCV003666537 uncertain significance Inborn genetic diseases 2022-12-15 criteria provided, single submitter clinical testing The c.1492C>T (p.R498C) alteration is located in exon 4 (coding exon 4) of the CPT2 gene. This alteration results from a C to T substitution at nucleotide position 1492, causing the arginine (R) at amino acid position 498 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449900 SCV004179557 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449897 SCV004179558 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449899 SCV004179559 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449898 SCV004179560 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001315543 SCV002090308 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-10-07 no assertion criteria provided clinical testing

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