ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1858T>C (p.Trp620Arg)

gnomAD frequency: 0.00004  dbSNP: rs1040318543
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530360 SCV000632600 uncertain significance Carnitine palmitoyltransferase II deficiency 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 620 of the CPT2 protein (p.Trp620Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 460430). 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.
Ambry Genetics RCV002527740 SCV003546987 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.1858T>C (p.W620R) alteration is located in exon 5 (coding exon 5) of the CPT2 gene. This alteration results from a T to C substitution at nucleotide position 1858, causing the tryptophan (W) at amino acid position 620 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003451153 SCV004178330 uncertain significance Encephalopathy, acute, infection-induced, susceptibility to, 4 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451150 SCV004178332 uncertain significance Carnitine palmitoyl transferase II deficiency, severe infantile form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451152 SCV004178333 uncertain significance Carnitine palmitoyl transferase II deficiency, neonatal form 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451151 SCV004178334 uncertain significance Carnitine palmitoyl transferase II deficiency, myopathic form 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791528 SCV005407905 uncertain significance not provided 2023-09-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000530360 SCV001454247 uncertain significance Carnitine palmitoyltransferase II deficiency 2020-09-16 no assertion criteria provided clinical testing

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